This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000354254.4:p.[Pro4393Ala;Gly4395_Glu4400delinsArgArgArgArgArgArg;Ala4402_Glu4404delinsCysGlnArg;Ala4406_Glu4411delinsArgTrpArgArgArgGly;Ala4413_Glu4422delinsArgTrpArgArgGlyGlyGlyGlyAlaArg]
CA2584909157
ENST00000360985.7:c.13176dup