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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471601.2:p.[Thr2543_Met2546delinsAspHisArgAspGly;Leu2548Gly;Leu2550_Lys2564delinsGluProLeuProValProGlyArgAlaAlaAlaHisHisGlnVal;Pro2567Ala;Phe2569_Ala2570delinsCys;Thr2572His]
CA633066609
ENST00000599547.6:c.7626_7627insG