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DESCRIBE <http://purl.uniprot.org/SHA-384/2438FC5DD68DD478B9C4255987D19FE83A1F3733941042FE5F7C137014BF49240310E8DD192613F5C30229157045EB43>
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http://purl.uniprot.org/SHA-384/2438FC5DD68DD478B9C4255987D19FE83A1F3733941042FE5F7C137014BF49240310E8DD192613F5C30229157045EB43
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/2438FC5DD68DD478B9C4255987D19FE83A1F3733941042FE5F7C137014BF49240310E8DD192613F5C30229157045EB43
http://www.w3.org/2000/01/rdf-schema#comment
"a first example of a dominant COL2A1 splice site variant as candidate causal mutation of a severe lethal chondrodysplasia phenotype"
xsd:string
http://purl.uniprot.org/uniprot/#_0D78C47226B27807A0070C8BBEAD4CF4262FAB6CE47ABE5FE8AA2C4352E8973ADD0BAA0BB218DB5B25D1E2B32997E39A
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/2438FC5DD68DD478B9C4255987D19FE83A1F3733941042FE5F7C137014BF49240310E8DD192613F5C30229157045EB43
http://purl.uniprot.org/uniprot/P02459
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2438FC5DD68DD478B9C4255987D19FE83A1F3733941042FE5F7C137014BF49240310E8DD192613F5C30229157045EB43
http://purl.uniprot.org/uniprot/#_P02459-mappedCitation-27296271
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/2438FC5DD68DD478B9C4255987D19FE83A1F3733941042FE5F7C137014BF49240310E8DD192613F5C30229157045EB43