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.Phe2517Leu
CA405670443
ENST00000599547.6:c.7549T>C
CA405670448
ENST00000599547.6:c.7551C>A
CA405670449
ENST00000599547.6:c.7551C>G