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) Transcript change
ENSP00000354254.4:p.Tyr5004Ter
ENST00000360985.7:c.15012del

ENST00000360985.7:c.15012T>A

ENST00000360985.7:c.15012T>G