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
ENSP00000499653.3:p.Phe4170Leu
CA345413536
ENST00000659194.3:c.12508T>C
CA345413541
ENST00000659194.3:c.12510T>A
CA345413542
ENST00000659194.3:c.12510T>G