Allele Registry

Canonical Allele Identifier: PA100626

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238418

RCV000775038

RCV001090450

RCV002327170

RCV003231417

ClinVar Variation:

251213

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Glu140Lys	CA10584911 NM_000527.5:c.418G>A