Allele Registry

Canonical Allele Identifier: PA915962617

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056228

RCV000119718

RCV000552166

RCV000624571

RCV001198416

RCV001731347

RCV001814037

RCV002281900

ClinVar Variation:

65981

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg2508Cys	CA024819 NM_001042723.2:c.7522C>T