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DESCRIBE <http://purl.uniprot.org/SHA-384/6132D5FA6FC778D60AEBF95CC5DF412428D237C087B27B2C4C8D9816580A34F148E042F06627DC25DBB23718EB1075C6>
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http://purl.uniprot.org/SHA-384/6132D5FA6FC778D60AEBF95CC5DF412428D237C087B27B2C4C8D9816580A34F148E042F06627DC25DBB23718EB1075C6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6132D5FA6FC778D60AEBF95CC5DF412428D237C087B27B2C4C8D9816580A34F148E042F06627DC25DBB23718EB1075C6
http://www.w3.org/2000/01/rdf-schema#comment
"DNA sequencing showed that the patient has carried compound heterozygous mutations of the tyrosinase related protein (TYRP1) gene namely c.1214C>A (p.T405N) and c.1333dupG which were inherited from his mother and father respectively."
xsd:string
http://purl.uniprot.org/uniprot/#_98BBD247173C9656664A3C7DDCA894232379E2F2426BC37FFFFDE2B7526A4DC84C16F68C59C28C3BB37FED598F153275
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/6132D5FA6FC778D60AEBF95CC5DF412428D237C087B27B2C4C8D9816580A34F148E042F06627DC25DBB23718EB1075C6
http://purl.uniprot.org/uniprot/P17643
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6132D5FA6FC778D60AEBF95CC5DF412428D237C087B27B2C4C8D9816580A34F148E042F06627DC25DBB23718EB1075C6
http://purl.uniprot.org/uniprot/#_P17643-mappedCitation-28186599
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6132D5FA6FC778D60AEBF95CC5DF412428D237C087B27B2C4C8D9816580A34F148E042F06627DC25DBB23718EB1075C6