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DESCRIBE <http://purl.uniprot.org/SHA-384/3C4E05AE3D889C381B821823C18CDF72CB83974C12DF08F56216325F46DA6700DB30296F935A1E76782579D2FF0ED3AA>
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http://purl.uniprot.org/SHA-384/3C4E05AE3D889C381B821823C18CDF72CB83974C12DF08F56216325F46DA6700DB30296F935A1E76782579D2FF0ED3AA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3C4E05AE3D889C381B821823C18CDF72CB83974C12DF08F56216325F46DA6700DB30296F935A1E76782579D2FF0ED3AA
http://www.w3.org/2000/01/rdf-schema#comment
"DHCR7 gene mutations is associated with Smith-Lemli-Opitz syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_33A1867B47BD08C3909D034E93F54F93016D24D40F4DEDA043BA6F651EFDEFC414DAB093A8FCB8566F68807071A33BC9
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3C4E05AE3D889C381B821823C18CDF72CB83974C12DF08F56216325F46DA6700DB30296F935A1E76782579D2FF0ED3AA
http://purl.uniprot.org/uniprot/A0A024R5F7
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3C4E05AE3D889C381B821823C18CDF72CB83974C12DF08F56216325F46DA6700DB30296F935A1E76782579D2FF0ED3AA
http://purl.uniprot.org/uniprot/#_A0A024R5F7-mappedCitation-17595012
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3C4E05AE3D889C381B821823C18CDF72CB83974C12DF08F56216325F46DA6700DB30296F935A1E76782579D2FF0ED3AA