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DESCRIBE <http://purl.uniprot.org/SHA-384/4BE78220EDBB34957CDCC3ECDA116FB02DC2C8055647207AFD8D4BD682D37006C674D10693341BF0C6E048B8DB8CA1AA>
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http://purl.uniprot.org/SHA-384/4BE78220EDBB34957CDCC3ECDA116FB02DC2C8055647207AFD8D4BD682D37006C674D10693341BF0C6E048B8DB8CA1AA
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4BE78220EDBB34957CDCC3ECDA116FB02DC2C8055647207AFD8D4BD682D37006C674D10693341BF0C6E048B8DB8CA1AA
http://www.w3.org/2000/01/rdf-schema#comment
"c.760C>T (p.R254X) mutation of the SLC22A5 gene is associated with the primary carnitine deficiency."
xsd:string
http://purl.uniprot.org/uniprot/#_29918F66DE1ED029F5B53AB461CA509AFA64C5BE34C1613965076B3287C344A077F7B1741BA20C90B92675E12001F0C5
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4BE78220EDBB34957CDCC3ECDA116FB02DC2C8055647207AFD8D4BD682D37006C674D10693341BF0C6E048B8DB8CA1AA
http://purl.uniprot.org/uniprot/O76082
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4BE78220EDBB34957CDCC3ECDA116FB02DC2C8055647207AFD8D4BD682D37006C674D10693341BF0C6E048B8DB8CA1AA
http://purl.uniprot.org/uniprot/#_O76082-mappedCitation-26252091
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4BE78220EDBB34957CDCC3ECDA116FB02DC2C8055647207AFD8D4BD682D37006C674D10693341BF0C6E048B8DB8CA1AA