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
ENSP00000353174.7:p.Glu4048Asp
CA345412525
ENST00000360064.7:c.12144A>C
CA345412527
ENST00000360064.7:c.12144A>T