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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000352608.2:p.[Pro4396Arg;Ala4397dup;Pro4399_Gly4400delinsArgAla;Asp4402_Glu4406delinsArgArgArgArgArgArg;Ala4408_Glu4410delinsCysGlnArg;Ala4412_Glu4417delinsArgTrpArgArgArgGly;Ala4419_Ala4425delinsArgTrpArgArgGlyGlyGly]
CA2584909155
ENST00000359596.7:c.13180_13186dup