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DESCRIBE <http://purl.uniprot.org/SHA-384/032FC83A353D51C02F1BAE2C4C328FD35134E0DCA50BD410216DA6FA2DED2E94640585B9EA7EA1377593EECFAB5AB5FF>
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http://purl.uniprot.org/SHA-384/032FC83A353D51C02F1BAE2C4C328FD35134E0DCA50BD410216DA6FA2DED2E94640585B9EA7EA1377593EECFAB5AB5FF
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/032FC83A353D51C02F1BAE2C4C328FD35134E0DCA50BD410216DA6FA2DED2E94640585B9EA7EA1377593EECFAB5AB5FF
http://www.w3.org/2000/01/rdf-schema#comment
"Mutation screening identified a novel nonsense mutation in PTCH (c.1136C > G; p.Ser383X) the gene associated with Gorlin syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_A26E20434BE4F5734D7D246A8FFBD5A0D8CCF50F7FA46DCAFBC52F8403A07A065931CBE38906C966AC79A9E2F5009C3F
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/032FC83A353D51C02F1BAE2C4C328FD35134E0DCA50BD410216DA6FA2DED2E94640585B9EA7EA1377593EECFAB5AB5FF
http://purl.uniprot.org/uniprot/Q13635
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/032FC83A353D51C02F1BAE2C4C328FD35134E0DCA50BD410216DA6FA2DED2E94640585B9EA7EA1377593EECFAB5AB5FF
http://purl.uniprot.org/uniprot/#_Q13635-mappedCitation-17258529
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/032FC83A353D51C02F1BAE2C4C328FD35134E0DCA50BD410216DA6FA2DED2E94640585B9EA7EA1377593EECFAB5AB5FF