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.Thr2116Ser
CA345411355
ENST00000609119.2:c.6346A>T
CA345411357
ENST00000609119.2:c.6347C>G