Allele Registry

Canonical Allele Identifier: PA302352

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000171768

RCV000212983

RCV000618657

RCV000776390

RCV001101821

RCV001101822

RCV001256932

RCV004539578

ClinVar Variation:

191546

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Arg4307Cys	CA007750 NM_001035.3:c.12919C>T