Allele Registry

Canonical Allele Identifier: PA2825422517

Gene: RYR1 HGNC NCBI

ClinVar RCV:

RCV000551114

RCV000623122

RCV000764199

RCV001797108

ClinVar Variation:

478185

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Pro4488Ala	CA059891 NM_001042723.2:c.13462C>G