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DESCRIBE <http://purl.uniprot.org/SHA-384/C30DC1555518F47E4BB83AD9731DDFC5D2154A86EAD7C8AC05960CADF45E47F4512C15375661B3D83CBCD5A46631F79E>
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http://purl.uniprot.org/SHA-384/C30DC1555518F47E4BB83AD9731DDFC5D2154A86EAD7C8AC05960CADF45E47F4512C15375661B3D83CBCD5A46631F79E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C30DC1555518F47E4BB83AD9731DDFC5D2154A86EAD7C8AC05960CADF45E47F4512C15375661B3D83CBCD5A46631F79E
http://www.w3.org/2000/01/rdf-schema#comment
"COX4I1 variant K101N was identified in a patient with short stature poor weight gain and increased chromosomal breaks simulating Fanconi anemia."
xsd:string
http://purl.uniprot.org/uniprot/#_15F3BEB53C25C22DB35170018C6E785132265475F355D3681551A76F87A9E5E264CCB0BE89D8A387D9BC2387014F2E2C
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C30DC1555518F47E4BB83AD9731DDFC5D2154A86EAD7C8AC05960CADF45E47F4512C15375661B3D83CBCD5A46631F79E
http://purl.uniprot.org/uniprot/Q86WV2
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C30DC1555518F47E4BB83AD9731DDFC5D2154A86EAD7C8AC05960CADF45E47F4512C15375661B3D83CBCD5A46631F79E
http://purl.uniprot.org/uniprot/#_Q86WV2-mappedCitation-28766551
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C30DC1555518F47E4BB83AD9731DDFC5D2154A86EAD7C8AC05960CADF45E47F4512C15375661B3D83CBCD5A46631F79E