Allele Registry

Canonical Allele Identifier: PA211612

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000030135

RCV000058923

RCV000855648

RCV001079897

RCV002051648

RCV002453272

ClinVar Variation:

36462

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Val827Ile	CA023677 NM_000527.5:c.2479G>A