Allele Registry

Canonical Allele Identifier: PA2826214123

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000030135

RCV000058923

RCV000855648

RCV001079897

RCV002051648

RCV002453272

ClinVar Variation:

36462

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Val786Ile	CA023677 NM_001195799.2:c.2356G>A