Allele Registry

Canonical Allele Identifier: PA272977

Gene: RYR2 HGNC NCBI

ClinVar Allele:

171060

ClinVar RCV:

RCV000148832

RCV000769796

RCV002288659

RCV002390314

ClinVar Variation:

161380

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Ala2498Val	CA010721 NM_001035.3:c.7493C>T