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.Phe1747Leu
CA405654265
ENST00000599547.6:c.5239T>C
CA405654272
ENST00000599547.6:c.5241C>G
CA405654273
ENST00000599547.6:c.5241C>A