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
ENSP00000347667.3:p.Asp2129Glu
CA024575
ENST00000355481.8:c.6387C>G
CA405663818
ENST00000355481.8:c.6387C>A