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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000347667.3:p.[Ala4299_Arg4317delinsProCysGluAlaSerAlaThrAlaAlaCysGlyGlyAlaCysGlyGlyCysGlyGly;Thr4319delinsArgPro;Glu4322_Ala4328delinsArgProProGlnTrpArg]
CA2814346152
ENST00000355481.8:c.12895del