Allele Registry

Canonical Allele Identifier: PA132969

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000036736

RCV000724637

RCV000768761

RCV001824587

RCV003996277

RCV004018809

ClinVar Variation:

43775

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Val1241Ile	CA009332 NM_001035.3:c.3721G>A