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.Leu2518Phe
CA405670455
ENST00000599547.6:c.7554G>C
CA405670456
ENST00000599547.6:c.7554G>T