Allele Registry

Canonical Allele Identifier: PA916000082

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000161987

RCV000417350

RCV000771545

RCV002390394

ClinVar Variation:

183115

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Val468Ile	CA023485 NM_001195798.2:c.1402G>A