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DESCRIBE <http://purl.uniprot.org/SHA-384/374DC8B97880718D969B829223E00628700B662C34E5931E1F19E27D6853E090E609598CDE34648127D08D63F7F7C4AD>
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http://purl.uniprot.org/SHA-384/374DC8B97880718D969B829223E00628700B662C34E5931E1F19E27D6853E090E609598CDE34648127D08D63F7F7C4AD
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/374DC8B97880718D969B829223E00628700B662C34E5931E1F19E27D6853E090E609598CDE34648127D08D63F7F7C4AD
http://www.w3.org/2000/01/rdf-schema#comment
"Study reported a patient with Wilson's disease (WD) presenting with a novel deletion mutation (c.532_574del43) and a known missense mutation (c.3517G > A) located in the two different ATP7B alleles."
xsd:string
http://purl.uniprot.org/uniprot/#_36D0F8AE6D1D1A5884E841A20B0C4C3BB41349D9A680579B52CB7E2E30D5142214A6720325C8DA7F6FE7ECE364441B10
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/374DC8B97880718D969B829223E00628700B662C34E5931E1F19E27D6853E090E609598CDE34648127D08D63F7F7C4AD
http://purl.uniprot.org/uniprot/E7ET55
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/374DC8B97880718D969B829223E00628700B662C34E5931E1F19E27D6853E090E609598CDE34648127D08D63F7F7C4AD
http://purl.uniprot.org/uniprot/#_E7ET55-mappedCitation-29649982
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/374DC8B97880718D969B829223E00628700B662C34E5931E1F19E27D6853E090E609598CDE34648127D08D63F7F7C4AD