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DESCRIBE <http://purl.uniprot.org/SHA-384/8664864AA85184AD31783F284820749AC126CC57B892CBB5D32F1F67799D5E9CD1104E1B540040E41349E26B558CC0E0>
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http://purl.uniprot.org/SHA-384/8664864AA85184AD31783F284820749AC126CC57B892CBB5D32F1F67799D5E9CD1104E1B540040E41349E26B558CC0E0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/8664864AA85184AD31783F284820749AC126CC57B892CBB5D32F1F67799D5E9CD1104E1B540040E41349E26B558CC0E0
http://www.w3.org/2000/01/rdf-schema#comment
"five RET sequence variants were detected in Hirschprung disease patients including G15165A in exon 11 G20692A in exon 15 A18919G T18888G and a frameshift mutation 18974insG in exon 13"
xsd:string
http://purl.uniprot.org/uniprot/#_70B2078807D6038AA3F3D6E2AE6244FE71D628AC329C12E1131A40877534430519C7B15B49667292035FCF4A5E5ECE89
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/8664864AA85184AD31783F284820749AC126CC57B892CBB5D32F1F67799D5E9CD1104E1B540040E41349E26B558CC0E0
http://purl.uniprot.org/uniprot/P07949
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8664864AA85184AD31783F284820749AC126CC57B892CBB5D32F1F67799D5E9CD1104E1B540040E41349E26B558CC0E0
http://purl.uniprot.org/uniprot/#_P07949-mappedCitation-17554617
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/8664864AA85184AD31783F284820749AC126CC57B892CBB5D32F1F67799D5E9CD1104E1B540040E41349E26B558CC0E0