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.Ala4748Thr
CA061015
ENST00000355481.8:c.14242G>A
CA658799221
ENST00000355481.8:c.14241_14242delinsCA