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DESCRIBE <http://purl.uniprot.org/SHA-384/FAAF7CF9D010E66205FE2321E9BBDE46F1816628164C5A6DE608B83C7D13111F9662115681EA308B7458ADA84313E1F8>
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http://purl.uniprot.org/SHA-384/FAAF7CF9D010E66205FE2321E9BBDE46F1816628164C5A6DE608B83C7D13111F9662115681EA308B7458ADA84313E1F8
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/FAAF7CF9D010E66205FE2321E9BBDE46F1816628164C5A6DE608B83C7D13111F9662115681EA308B7458ADA84313E1F8
http://www.w3.org/2000/01/rdf-schema#comment
"Recurrent epistaxis is the main manifestation of hereditary hemorrhagic telangiectasia in this family. The mutation of ACVRL1 gene is the pathogenic gene of this family."
xsd:string
http://purl.uniprot.org/uniprot/#_3776C6503C426FD98B4199A055E9C5AB6B4795B8926970C73E7626976D306D8A46CD1F064999E7A55BC7D32A4A15BFA8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/FAAF7CF9D010E66205FE2321E9BBDE46F1816628164C5A6DE608B83C7D13111F9662115681EA308B7458ADA84313E1F8
http://purl.uniprot.org/uniprot/G3V1W8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FAAF7CF9D010E66205FE2321E9BBDE46F1816628164C5A6DE608B83C7D13111F9662115681EA308B7458ADA84313E1F8
http://purl.uniprot.org/uniprot/#_G3V1W8-mappedCitation-31327192
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/FAAF7CF9D010E66205FE2321E9BBDE46F1816628164C5A6DE608B83C7D13111F9662115681EA308B7458ADA84313E1F8