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
NP_001036188.1:p.Gly1750Arg
CA405654293
NM_001042723.2:c.5248G>C
CA405654296
NM_001042723.2:c.5248G>A