Allele Registry

Canonical Allele Identifier: PA211610

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000162024

RCV000237126

RCV000776249

RCV001420704

RCV002051671

RCV002453471

ClinVar Variation:

161278

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Arg814Gln	CA023671 NM_000527.5:c.2441G>A