Allele Registry

Canonical Allele Identifier: PA645511023

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000506199

RCV002358392

RCV002527369

RCV004003560

ClinVar Variation:

440247

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Lys2053Arg	CA087055 NM_001035.3:c.6158A>G