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DESCRIBE <http://purl.uniprot.org/SHA-384/839414FE8B0BA66654C6FBA3AD26EE16E0B793F7F00FAAB770D13E9100F4696A3392907FF1F16269707BCC83FE958399>
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http://purl.uniprot.org/SHA-384/839414FE8B0BA66654C6FBA3AD26EE16E0B793F7F00FAAB770D13E9100F4696A3392907FF1F16269707BCC83FE958399
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/839414FE8B0BA66654C6FBA3AD26EE16E0B793F7F00FAAB770D13E9100F4696A3392907FF1F16269707BCC83FE958399
http://www.w3.org/2000/01/rdf-schema#comment
"we identified a CLCN7 mutation in a family with autosomal dominant osteopetrosis RTA renal stones epilepsy and blindness."
xsd:string
http://purl.uniprot.org/uniprot/#_88DA618F083928340C30B93783BAD35134B6DD19A61533AA0F1F4CF12AB2FB7373446ABE69EFC17EF260205666E99D46
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/839414FE8B0BA66654C6FBA3AD26EE16E0B793F7F00FAAB770D13E9100F4696A3392907FF1F16269707BCC83FE958399
http://purl.uniprot.org/uniprot/B3KVJ8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/839414FE8B0BA66654C6FBA3AD26EE16E0B793F7F00FAAB770D13E9100F4696A3392907FF1F16269707BCC83FE958399
http://purl.uniprot.org/uniprot/#_B3KVJ8-mappedCitation-27540713
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/839414FE8B0BA66654C6FBA3AD26EE16E0B793F7F00FAAB770D13E9100F4696A3392907FF1F16269707BCC83FE958399