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DESCRIBE <http://purl.uniprot.org/SHA-384/52E619EAE45114D24D0D08F83FA883AED94781A1D80F6C926BFB98288CDD7129DCA1FBBA3C72CCF4712E616CB657B127>
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http://purl.uniprot.org/SHA-384/52E619EAE45114D24D0D08F83FA883AED94781A1D80F6C926BFB98288CDD7129DCA1FBBA3C72CCF4712E616CB657B127
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/52E619EAE45114D24D0D08F83FA883AED94781A1D80F6C926BFB98288CDD7129DCA1FBBA3C72CCF4712E616CB657B127
http://www.w3.org/2000/01/rdf-schema#comment
"novel missense mutation within the SLC12A1 gene causing a severe form of antenatal Bartter syndrome type I in Israeli Bedouins"
xsd:string
http://purl.uniprot.org/uniprot/#_53A3ED6F26775787481A382356F24155D43881795FA688FAEE3E391D2395975D13F4D8CAEF0F5A4F36F68134B914439D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/52E619EAE45114D24D0D08F83FA883AED94781A1D80F6C926BFB98288CDD7129DCA1FBBA3C72CCF4712E616CB657B127
http://purl.uniprot.org/uniprot/Q8IUN5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/52E619EAE45114D24D0D08F83FA883AED94781A1D80F6C926BFB98288CDD7129DCA1FBBA3C72CCF4712E616CB657B127
http://purl.uniprot.org/uniprot/#_Q8IUN5-mappedCitation-30977917
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/52E619EAE45114D24D0D08F83FA883AED94781A1D80F6C926BFB98288CDD7129DCA1FBBA3C72CCF4712E616CB657B127