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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.[Ala2303del;Cys2305_Gly2306delinsArg;Gln2308_Cys2310delinsTrpPro;Met2312Glu;Val2314delinsProHis;Lys2316Cys;Tyr2318_Gly2322delinsGlnArgValProArgHis;Asn2324_Glu2329delinsLeuGluProLeuTrpTrp;Tyr2331delinsAlaLeuPro]
CA082241
ENST00000599547.6:c.6905dup