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_011525507.1:p.Ser2983Arg
CA405683338
XM_011527205.2:c.8947A>C
CA405683350
XM_011527205.2:c.8949T>A
CA405683352
XM_011527205.2:c.8949T>G