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DESCRIBE <http://purl.uniprot.org/SHA-384/63CAE58CAA3CAD50D6B1B4D7C7A37D503D4A5B586098619C87CB208B483813218F72F99488A76783CA801E38CAE15AF9>
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http://purl.uniprot.org/SHA-384/63CAE58CAA3CAD50D6B1B4D7C7A37D503D4A5B586098619C87CB208B483813218F72F99488A76783CA801E38CAE15AF9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/63CAE58CAA3CAD50D6B1B4D7C7A37D503D4A5B586098619C87CB208B483813218F72F99488A76783CA801E38CAE15AF9
http://www.w3.org/2000/01/rdf-schema#comment
"Congenital central hypoventilation syndrome associated nonpolyalanine repeat mutations in PHOX2B are mostly de novo predominantly affect the 3'end of PHOX2B and generally associated with a more severe phenotype."
xsd:string
http://purl.uniprot.org/uniprot/#_DAFEF7CFB2D3E87809ED7085E0C32A899D447C13FD79EEF8F9AEEFA6E4D0D104DAA280DBA6FFD442BBFC5517DFABF5DE
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/63CAE58CAA3CAD50D6B1B4D7C7A37D503D4A5B586098619C87CB208B483813218F72F99488A76783CA801E38CAE15AF9
http://purl.uniprot.org/uniprot/Q99453
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/63CAE58CAA3CAD50D6B1B4D7C7A37D503D4A5B586098619C87CB208B483813218F72F99488A76783CA801E38CAE15AF9
http://purl.uniprot.org/uniprot/#_Q99453-mappedCitation-16888290
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/63CAE58CAA3CAD50D6B1B4D7C7A37D503D4A5B586098619C87CB208B483813218F72F99488A76783CA801E38CAE15AF9