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
ENSP00000354254.4:p.Phe1660Leu
CA405652799
ENST00000360985.7:c.4978T>C
CA405652822
ENST00000360985.7:c.4980C>A
CA405652827
ENST00000360985.7:c.4980C>G