Allele Registry

Canonical Allele Identifier: PA211628

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000210245

RCV000815637

RCV000996761

RCV002051679

RCV002444608

ClinVar Variation:

161286

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Arg751Gln	CA023654 NM_000527.5:c.2252G>A