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DESCRIBE <http://purl.uniprot.org/SHA-384/0965676B39498EC19CB3DEDFF6DB14C23B92223F63396F6DA6BDAFCFCDCDF921AA5C6F5F09ECA28E287C50863D66AD2D>
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http://purl.uniprot.org/SHA-384/0965676B39498EC19CB3DEDFF6DB14C23B92223F63396F6DA6BDAFCFCDCDF921AA5C6F5F09ECA28E287C50863D66AD2D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0965676B39498EC19CB3DEDFF6DB14C23B92223F63396F6DA6BDAFCFCDCDF921AA5C6F5F09ECA28E287C50863D66AD2D
http://www.w3.org/2000/01/rdf-schema#comment
"A novel heterozygous c.290C>G (p.S97C) mutation in ORAI1 causing a mild- and late-onset tubular aggregate myopathy and congenital miosis via constitutive activation of the CRAC channel."
xsd:string
http://purl.uniprot.org/uniprot/#_22A9D0E2BF07C5D0606BE08A29AC2233FBF4CCC084DA517974100D3F90D7E81AB77237810B9243D955E10BC68C3EEE10
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0965676B39498EC19CB3DEDFF6DB14C23B92223F63396F6DA6BDAFCFCDCDF921AA5C6F5F09ECA28E287C50863D66AD2D
http://purl.uniprot.org/uniprot/Q96D31
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0965676B39498EC19CB3DEDFF6DB14C23B92223F63396F6DA6BDAFCFCDCDF921AA5C6F5F09ECA28E287C50863D66AD2D
http://purl.uniprot.org/uniprot/#_Q96D31-mappedCitation-27882542
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0965676B39498EC19CB3DEDFF6DB14C23B92223F63396F6DA6BDAFCFCDCDF921AA5C6F5F09ECA28E287C50863D66AD2D