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
XP_016857517.1:p.Glu4148Asp
CA345413158
XM_017002028.1:c.12444A>C
CA345413159
XM_017002028.1:c.12444A>T