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DESCRIBE <http://purl.uniprot.org/SHA-384/C1102C86DF4EDDC03A1F75F0B0D4795AFBA5ABAFCCED01A6F728457AACC78E5F19547F58078FA242627976A365AE2EE2>
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http://purl.uniprot.org/SHA-384/C1102C86DF4EDDC03A1F75F0B0D4795AFBA5ABAFCCED01A6F728457AACC78E5F19547F58078FA242627976A365AE2EE2
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C1102C86DF4EDDC03A1F75F0B0D4795AFBA5ABAFCCED01A6F728457AACC78E5F19547F58078FA242627976A365AE2EE2
http://www.w3.org/2000/01/rdf-schema#comment
"Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_736D4BB2CFA971A59940E90131708C135538D9C88F2CE3C6682C7119120090DCA4BB96C72A28FFBC31F3DCAED4409622
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C1102C86DF4EDDC03A1F75F0B0D4795AFBA5ABAFCCED01A6F728457AACC78E5F19547F58078FA242627976A365AE2EE2
http://purl.uniprot.org/uniprot/A0A090N7X5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C1102C86DF4EDDC03A1F75F0B0D4795AFBA5ABAFCCED01A6F728457AACC78E5F19547F58078FA242627976A365AE2EE2
http://purl.uniprot.org/uniprot/#_A0A090N7X5-mappedCitation-38086455
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C1102C86DF4EDDC03A1F75F0B0D4795AFBA5ABAFCCED01A6F728457AACC78E5F19547F58078FA242627976A365AE2EE2