Allele Registry

Canonical Allele Identifier: PA132940

Gene: RYR2 HGNC NCBI

ClinVar RCV:

RCV000036693

RCV001175858

RCV001797049

RCV002513407

RCV003162319

RCV003996256

ClinVar Variation:

43739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Ala4723Thr	CA008183 NM_001035.3:c.14167G>A