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: RYR2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499787.2:p.Ser4160Arg
CA345413330
ENST00000660292.2:c.12478A>C
CA345413344
ENST00000660292.2:c.12480T>A
CA345413345
ENST00000660292.2:c.12480T>G