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.Gln4249His
CA405671065
XM_011527205.2:c.12747G>C
CA405671066
XM_011527205.2:c.12747G>T