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.His4749Gln
CA405684686
ENST00000355481.8:c.14247C>A
CA405684688
ENST00000355481.8:c.14247C>G