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DESCRIBE <http://purl.uniprot.org/annotation/VAR_005597>
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http://purl.uniprot.org/annotation/VAR_005597
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Natural_Variant_Annotation
http://purl.uniprot.org/annotation/VAR_005597
http://www.w3.org/2000/01/rdf-schema#comment
"In CMYP1A and MHS1; 3-5% of the cases; increases calcium-induced calcium release activity."
xsd:string
http://purl.uniprot.org/annotation/VAR_005597
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs118192172
http://purl.uniprot.org/annotation/VAR_005597
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22573185114388270tt614tt614
http://purl.uniprot.org/annotation/VAR_005597
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/1331
http://purl.uniprot.org/annotation/VAR_005597
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/1929
http://purl.uniprot.org/annotation/VAR_005597
http://purl.uniprot.org/core/substitution
"C"
xsd:string
http://purl.uniprot.org/uniprot/P21817
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_005597
http://purl.uniprot.org/uniprot/#_kb.P21817_up.annotation_a.VAR_005597
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_005597