Allele Registry

Canonical Allele Identifier: PA658802068

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000626286

RCV002529788

RCV003133414

ClinVar Variation:

523076

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Met2816Val	CA072049 NM_001042723.2:c.8446A>G