Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Val3994Leu	CA405662925 NM_000540.3:c.11980G>T CA405662928 NM_000540.3:c.11980G>C