Allele Registry

Canonical Allele Identifier: PA2825422695

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056188

RCV000119490

RCV001198930

RCV001450011

RCV003591652

ClinVar Variation:

65941

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Gly4633Asp	CA024084 NM_001042723.2:c.13898G>A