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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.[Ala4304_Arg4322delinsProCysGluAlaSerAlaThrAlaAlaCysGlyGlyAlaCysGlyGlyCysGlyGly;Thr4324delinsArgPro;Glu4327_Ala4333delinsArgProProGlnTrpArg]
CA2814346152
NM_000540.3:c.12910del