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DESCRIBE <http://purl.uniprot.org/SHA-384/8D36721D47095DE169C9A130D41FD5C15C8854ABCC5A0607D65F806A0729CA8142718BC0FE8253F2B174596CC9F051DB>
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http://purl.uniprot.org/SHA-384/8D36721D47095DE169C9A130D41FD5C15C8854ABCC5A0607D65F806A0729CA8142718BC0FE8253F2B174596CC9F051DB
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/8D36721D47095DE169C9A130D41FD5C15C8854ABCC5A0607D65F806A0729CA8142718BC0FE8253F2B174596CC9F051DB
http://www.w3.org/2000/01/rdf-schema#comment
"Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene."
xsd:string
http://purl.uniprot.org/uniprot/#_0B1E1CA6A5D8D58A0D92BB1BD5306DE0A92CA2CBDE952EFF6CC235031C7AE1223081E6F828EFC3EF9F9E1D45F7502150
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/8D36721D47095DE169C9A130D41FD5C15C8854ABCC5A0607D65F806A0729CA8142718BC0FE8253F2B174596CC9F051DB
http://purl.uniprot.org/uniprot/A0A0S2Z520
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8D36721D47095DE169C9A130D41FD5C15C8854ABCC5A0607D65F806A0729CA8142718BC0FE8253F2B174596CC9F051DB
http://purl.uniprot.org/uniprot/#_A0A0S2Z520-mappedCitation-32186211
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8D36721D47095DE169C9A130D41FD5C15C8854ABCC5A0607D65F806A0729CA8142718BC0FE8253F2B174596CC9F051DB