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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.[Arg2625_Phe2628delinsGln;Val2630_Phe2636delinsAlaThrGln;Lys2638_Met2639del;Leu2641_Asn2646del;Tyr2648_Cys2656delinsGlnPro;Pro2658_Thr2667del]
CA082731
ENST00000599547.6:c.7874_7911del