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DESCRIBE <http://purl.uniprot.org/SHA-384/40AD76E50FFA1B7FD2AEAAE3EA65E95760BBBF94DE9F70FD46A9E0CAFFD5498E67A2AAF6D3BAE7084062C955D246248A>
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http://purl.uniprot.org/SHA-384/40AD76E50FFA1B7FD2AEAAE3EA65E95760BBBF94DE9F70FD46A9E0CAFFD5498E67A2AAF6D3BAE7084062C955D246248A
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/40AD76E50FFA1B7FD2AEAAE3EA65E95760BBBF94DE9F70FD46A9E0CAFFD5498E67A2AAF6D3BAE7084062C955D246248A
http://www.w3.org/2000/01/rdf-schema#comment
"A rare variant c.835-5T>G in intron 6 of SMN1 was identified in a patient affected with type I spinal muscular atrophy."
xsd:string
http://purl.uniprot.org/uniprot/#_1AE7504BEE3503C3F8BBC5F56C3749C5F80148850125796091FF1800A80E0CCC9951720174CA906FA0D1BFB0EA17E121
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/40AD76E50FFA1B7FD2AEAAE3EA65E95760BBBF94DE9F70FD46A9E0CAFFD5498E67A2AAF6D3BAE7084062C955D246248A
http://purl.uniprot.org/uniprot/E7EQZ4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/40AD76E50FFA1B7FD2AEAAE3EA65E95760BBBF94DE9F70FD46A9E0CAFFD5498E67A2AAF6D3BAE7084062C955D246248A
http://purl.uniprot.org/uniprot/#_E7EQZ4-mappedCitation-29799103
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/40AD76E50FFA1B7FD2AEAAE3EA65E95760BBBF94DE9F70FD46A9E0CAFFD5498E67A2AAF6D3BAE7084062C955D246248A