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.Phe2997Leu
CA405683468
ENST00000599547.6:c.8989T>C
CA405683473
ENST00000599547.6:c.8991C>A
CA405683474
ENST00000599547.6:c.8991C>G