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.Phe2251Leu
CA405666343
ENST00000359596.7:c.6751T>C
CA405666348
ENST00000359596.7:c.6753T>A
CA405666349
ENST00000359596.7:c.6753T>G