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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.[Met2312_Tyr2318delinsHisAlaCysGlyGlnArgVal;Asp2320_Asn2324delinsArgHisTrpLeuGlu;Cys2326_Glu2329delinsLeuTrpTrp;Tyr2331Ala;Asp2333_Phe2334delinsProGly;Arg2336_Val2341delinsProAlaLeuCysCysLeuArg]
CA916082460
ENST00000599547.6:c.6933dup