Allele Registry

Canonical Allele Identifier: PA105645

Gene: RYR1 HGNC NCBI

ClinVar Allele:

136848

ClinVar RCV:

RCV000119576

RCV000148805

RCV000655554

RCV001249073

RCV001449797

ClinVar Variation:

133101

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg530His	CA024291 NM_000540.3:c.1589G>A