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DESCRIBE <http://purl.uniprot.org/SHA-384/FDDC3147EDC8E9996E869D6877EA056C6B878F4A143BD6DF2684E2D8B7B96524CE2A1C219780713F2F7E344A3B0B83CB>
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http://purl.uniprot.org/SHA-384/FDDC3147EDC8E9996E869D6877EA056C6B878F4A143BD6DF2684E2D8B7B96524CE2A1C219780713F2F7E344A3B0B83CB
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/FDDC3147EDC8E9996E869D6877EA056C6B878F4A143BD6DF2684E2D8B7B96524CE2A1C219780713F2F7E344A3B0B83CB
http://www.w3.org/2000/01/rdf-schema#comment
"p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay organomegaly and hypopigmentation from lysosomal hyperacidity abnormal storage and enlarged intracellular vacuoles."
xsd:string
http://purl.uniprot.org/uniprot/#_C5211DF01CF6076C324CAAB637059E97FCD4FAA86C9B3712640652AAD518F437C37984811F3DA5554C447051C28036A2
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/FDDC3147EDC8E9996E869D6877EA056C6B878F4A143BD6DF2684E2D8B7B96524CE2A1C219780713F2F7E344A3B0B83CB
http://purl.uniprot.org/uniprot/B3KUD9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FDDC3147EDC8E9996E869D6877EA056C6B878F4A143BD6DF2684E2D8B7B96524CE2A1C219780713F2F7E344A3B0B83CB
http://purl.uniprot.org/uniprot/#_B3KUD9-mappedCitation-31155284
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FDDC3147EDC8E9996E869D6877EA056C6B878F4A143BD6DF2684E2D8B7B96524CE2A1C219780713F2F7E344A3B0B83CB