Allele Registry

Canonical Allele Identifier: PA092537

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000013823

RCV000478561

RCV000617445

RCV003149571

ClinVar Variation:

12957

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Arg4497Cys	CA007921 NM_001035.3:c.13489C>T