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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.[Phe2541del;Thr2543_Met2546del;Leu2548_Asn2551delinsProProArgTrp;Tyr2553_Ala2570delinsTrpArg]
CA2584900594
ENST00000599547.6:c.7622del