Allele Registry

Canonical Allele Identifier: PA306820

Gene: RYR2 HGNC NCBI

ClinVar Allele:

196545

ClinVar RCV:

RCV000182684

RCV001189917

RCV002399658

RCV002516869

ClinVar Variation:

201217

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Glu521Lys	CA008495 NM_001035.3:c.1561G>A