Allele Registry

Canonical Allele Identifier: PA2826212692

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000234348

RCV000775051

RCV000826170

RCV001843483

RCV002051661

RCV002371991

ClinVar Variation:

161268

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Glu247Lys	CA023783 NM_001195799.2:c.739G>A