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DESCRIBE <http://purl.uniprot.org/SHA-384/1F02C4D0AD39010E5388F4D76C182C28ED7CCAF13D04E7E66E9EB61FE0215D8AEF9F4CC021C39807EFCBB5397EA32692>
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http://purl.uniprot.org/SHA-384/1F02C4D0AD39010E5388F4D76C182C28ED7CCAF13D04E7E66E9EB61FE0215D8AEF9F4CC021C39807EFCBB5397EA32692
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/1F02C4D0AD39010E5388F4D76C182C28ED7CCAF13D04E7E66E9EB61FE0215D8AEF9F4CC021C39807EFCBB5397EA32692
http://www.w3.org/2000/01/rdf-schema#comment
"Both probands with congenital dyserythropoietic anemia IotaI in the second family were homozygotes of the SEC23B gene with mutation c.938G>A (R313H)."
xsd:string
http://purl.uniprot.org/uniprot/#_F94E6283261320D7498EE8952D06BE17C8B559716B5BC4F1CC4E4B042F98966E4E243B6BE095FACFF48D8F5C17C6CECA
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/1F02C4D0AD39010E5388F4D76C182C28ED7CCAF13D04E7E66E9EB61FE0215D8AEF9F4CC021C39807EFCBB5397EA32692
http://purl.uniprot.org/uniprot/Q15437
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1F02C4D0AD39010E5388F4D76C182C28ED7CCAF13D04E7E66E9EB61FE0215D8AEF9F4CC021C39807EFCBB5397EA32692
http://purl.uniprot.org/uniprot/#_Q15437-mappedCitation-24196372
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1F02C4D0AD39010E5388F4D76C182C28ED7CCAF13D04E7E66E9EB61FE0215D8AEF9F4CC021C39807EFCBB5397EA32692