Allele Registry

Canonical Allele Identifier: PA915961683

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000119576

RCV000148805

RCV000655554

RCV001249073

RCV001449797

ClinVar Variation:

133101

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Arg530His	CA024291 NM_001042723.2:c.1589G>A