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DESCRIBE <http://purl.uniprot.org/SHA-384/B5F4D405686CFD9374C0D7D48B4E394AB8DBA385936C2B92F8FFB2AAF6FCE135026791967199A469D8E51550DA3CD459>
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http://purl.uniprot.org/SHA-384/B5F4D405686CFD9374C0D7D48B4E394AB8DBA385936C2B92F8FFB2AAF6FCE135026791967199A469D8E51550DA3CD459
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/B5F4D405686CFD9374C0D7D48B4E394AB8DBA385936C2B92F8FFB2AAF6FCE135026791967199A469D8E51550DA3CD459
http://www.w3.org/2000/01/rdf-schema#comment
"This is a novel missense mutation [c.829C > T (p.H277Y)]"
xsd:string
http://purl.uniprot.org/uniprot/#_50EA0FF3871507DAFC90E4806731B224EC776114E8872E9373A54690DA5948F5234F32DE6533871A1C4FD0A32CBEA3A8
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/B5F4D405686CFD9374C0D7D48B4E394AB8DBA385936C2B92F8FFB2AAF6FCE135026791967199A469D8E51550DA3CD459
http://purl.uniprot.org/uniprot/P48165
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B5F4D405686CFD9374C0D7D48B4E394AB8DBA385936C2B92F8FFB2AAF6FCE135026791967199A469D8E51550DA3CD459
http://purl.uniprot.org/uniprot/#_P48165-mappedCitation-25947639
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/B5F4D405686CFD9374C0D7D48B4E394AB8DBA385936C2B92F8FFB2AAF6FCE135026791967199A469D8E51550DA3CD459