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
ENSP00000352608.2:p.Phe4672Leu
CA060776
ENST00000359596.7:c.14014T>C
CA405681886
ENST00000359596.7:c.14016T>A
CA405681887
ENST00000359596.7:c.14016T>G