Allele Registry

Canonical Allele Identifier: PA235486

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000162023

RCV000237576

RCV000241875

RCV001082380

RCV002326922

ClinVar Variation:

183138

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ala391Thr	CA023426 NM_000527.5:c.1171G>A