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
ENSP00000499659.2:p.Trp160Arg
CA345375426
ENST00000609119.2:c.478T>A
CA345375427
ENST00000609119.2:c.478T>C