Allele Registry

Canonical Allele Identifier: PA916000120

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211688

RCV000775069

RCV000826171

RCV001256967

RCV002051670

RCV002390310

ClinVar Variation:

161277

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly478Arg	CA023495 NM_001195798.2:c.1432G>A CA404085987 NM_001195798.2:c.1432G>C