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
ENSP00000347667.3:p.Met1814Ile
CA081788
ENST00000355481.8:c.5442G>A
CA405655324
ENST00000355481.8:c.5442G>C
CA405655327
ENST00000355481.8:c.5442G>T