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DESCRIBE <http://purl.uniprot.org/SHA-384/DEE33C6AD68144FEDFC5CFC02890569A1D1B242AB2B36417D11539800A54EB89D811635E960B8407C20ACA427CC7A3D2>
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http://purl.uniprot.org/SHA-384/DEE33C6AD68144FEDFC5CFC02890569A1D1B242AB2B36417D11539800A54EB89D811635E960B8407C20ACA427CC7A3D2
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/DEE33C6AD68144FEDFC5CFC02890569A1D1B242AB2B36417D11539800A54EB89D811635E960B8407C20ACA427CC7A3D2
http://www.w3.org/2000/01/rdf-schema#comment
"identified a novel COL4A2 (c.2399G>A p.G800E CCDS41907.1) mutation in an autosomal dominant family with porencephaly and ocular abnormalities"
xsd:string
http://purl.uniprot.org/uniprot/#_EF99A579005673A9ECFBDC1BC669905B767BDEF986D8EEC0E3062773640FD58BD0E8080598A984B8FE05EC910C957B54
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/DEE33C6AD68144FEDFC5CFC02890569A1D1B242AB2B36417D11539800A54EB89D811635E960B8407C20ACA427CC7A3D2
http://purl.uniprot.org/uniprot/P08572
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DEE33C6AD68144FEDFC5CFC02890569A1D1B242AB2B36417D11539800A54EB89D811635E960B8407C20ACA427CC7A3D2
http://purl.uniprot.org/uniprot/#_P08572-mappedCitation-26708157
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DEE33C6AD68144FEDFC5CFC02890569A1D1B242AB2B36417D11539800A54EB89D811635E960B8407C20ACA427CC7A3D2