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DESCRIBE <http://purl.uniprot.org/SHA-384/3BF6DDE7D2036CF1B43C53D94FD61ABA65CE4CB5BFC8D858D6EEDB16DECEB96754ACAA02563EF33F9DCE9EF9CBEA4B99>
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http://purl.uniprot.org/SHA-384/3BF6DDE7D2036CF1B43C53D94FD61ABA65CE4CB5BFC8D858D6EEDB16DECEB96754ACAA02563EF33F9DCE9EF9CBEA4B99
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3BF6DDE7D2036CF1B43C53D94FD61ABA65CE4CB5BFC8D858D6EEDB16DECEB96754ACAA02563EF33F9DCE9EF9CBEA4B99
http://www.w3.org/2000/01/rdf-schema#comment
"Neurodevelopmental disease familial dysautonomia (FD)caused by a single-base change in the 5' splice site (5'ss) of intron 20 in the IKBKAP gene (c.2204+6T>C)."
xsd:string
http://purl.uniprot.org/uniprot/#_4D97F36B74FFEDFAF8FBAB419D64708DF22A7761CDC48C4234AD88A4E50673C91AD2E075B20B745475266070FF55B4CC
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3BF6DDE7D2036CF1B43C53D94FD61ABA65CE4CB5BFC8D858D6EEDB16DECEB96754ACAA02563EF33F9DCE9EF9CBEA4B99
http://purl.uniprot.org/uniprot/O95163
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3BF6DDE7D2036CF1B43C53D94FD61ABA65CE4CB5BFC8D858D6EEDB16DECEB96754ACAA02563EF33F9DCE9EF9CBEA4B99
http://purl.uniprot.org/uniprot/#_O95163-mappedCitation-16964593
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3BF6DDE7D2036CF1B43C53D94FD61ABA65CE4CB5BFC8D858D6EEDB16DECEB96754ACAA02563EF33F9DCE9EF9CBEA4B99