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DESCRIBE <http://purl.uniprot.org/SHA-384/0095902C28C2B70C621193449CBCEF5BCC0B2CF01C838B0540815BDD3DF74B1BB0F69EDB9EEF0F4F0C6C669653461294>
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http://purl.uniprot.org/SHA-384/0095902C28C2B70C621193449CBCEF5BCC0B2CF01C838B0540815BDD3DF74B1BB0F69EDB9EEF0F4F0C6C669653461294
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0095902C28C2B70C621193449CBCEF5BCC0B2CF01C838B0540815BDD3DF74B1BB0F69EDB9EEF0F4F0C6C669653461294
http://www.w3.org/2000/01/rdf-schema#comment
"genes causing hereditary hemorrhagic telangiectasia (HHT) i.e. endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1) have a relatively high mutation rate.all the four ENG mutations and one of the ACVRL1 mutations were new"
xsd:string
http://purl.uniprot.org/uniprot/#_79BC1191291AA0AAEAC69BF34BC10CC9CCFB9A9F9B6E9AF66E7BC2CF658A25901C7695833891542EF84AAD0D4723993D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0095902C28C2B70C621193449CBCEF5BCC0B2CF01C838B0540815BDD3DF74B1BB0F69EDB9EEF0F4F0C6C669653461294
http://purl.uniprot.org/uniprot/Q5T9B9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0095902C28C2B70C621193449CBCEF5BCC0B2CF01C838B0540815BDD3DF74B1BB0F69EDB9EEF0F4F0C6C669653461294
http://purl.uniprot.org/uniprot/#_Q5T9B9-mappedCitation-18607909
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0095902C28C2B70C621193449CBCEF5BCC0B2CF01C838B0540815BDD3DF74B1BB0F69EDB9EEF0F4F0C6C669653461294