Allele Registry

Canonical Allele Identifier: PA2826213242

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000161987

RCV000417350

RCV000771545

RCV002390394

ClinVar Variation:

183115

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Val427Ile	CA023485 NM_001195799.2:c.1279G>A