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DESCRIBE <http://purl.uniprot.org/SHA-384/49F30C235DFD8C6273AC655B71774F68E8A4C13AA69720623AA8ACC7238E18724FE779DE782E093437B785DA5EAD7E8F>
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http://purl.uniprot.org/SHA-384/49F30C235DFD8C6273AC655B71774F68E8A4C13AA69720623AA8ACC7238E18724FE779DE782E093437B785DA5EAD7E8F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/49F30C235DFD8C6273AC655B71774F68E8A4C13AA69720623AA8ACC7238E18724FE779DE782E093437B785DA5EAD7E8F
http://www.w3.org/2000/01/rdf-schema#comment
"Genetic testing confirmed the diagnosis of hereditary hyperferritinemia cataract syndrome (HHCS) demonstrating a C39>G (c.-161C>G) mutation into FTL gene."
xsd:string
http://purl.uniprot.org/uniprot/#_9C7D5278B4E4D903F25278D9B4A90B7B2BBF368C8C1F4F2383D9AA0F0DD837A99141BDCA64780F98ED541F06C4E757FD
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/49F30C235DFD8C6273AC655B71774F68E8A4C13AA69720623AA8ACC7238E18724FE779DE782E093437B785DA5EAD7E8F
http://purl.uniprot.org/uniprot/B1Q387
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/49F30C235DFD8C6273AC655B71774F68E8A4C13AA69720623AA8ACC7238E18724FE779DE782E093437B785DA5EAD7E8F
http://purl.uniprot.org/uniprot/#_B1Q387-mappedCitation-24983587
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/49F30C235DFD8C6273AC655B71774F68E8A4C13AA69720623AA8ACC7238E18724FE779DE782E093437B785DA5EAD7E8F