Allele Registry

Canonical Allele Identifier: PA105969

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000056188

RCV000119490

RCV001198930

RCV001450011

RCV003591652

ClinVar Variation:

65941

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly4638Asp	CA024084 NM_000540.3:c.13913G>A