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
XP_006723382.1:p.[Gly4342del;Leu4344_Leu4347delinsTrp;Gly4349_Gly4359delinsArg;Lys4361_Met4372del;Asp4374_Gln4384delinsArgArg]
CA2584909146
XM_006723319.2:c.13025_13064del