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: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471601.2:p.Phe502Leu
CA405688878
ENST00000599547.6:c.1504T>C
CA405688898
ENST00000599547.6:c.1506T>A
CA405688919
ENST00000599547.6:c.1506T>G