Allele Registry

Canonical Allele Identifier: PA658668520

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000551114

RCV000623122

RCV000764199

RCV001797108

ClinVar Variation:

478185

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Pro4493Ala	CA059891 NM_000540.3:c.13477C>G