Allele Registry

Canonical Allele Identifier: PA235444

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000161987

RCV000417350

RCV000771545

RCV002390394

ClinVar Variation:

183115

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Val468Ile	CA023485 NM_000527.5:c.1402G>A