Allele Registry

Canonical Allele Identifier: PA2826216285

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000162021

RCV000237236

RCV000455308

RCV000771170

RCV002051656

RCV002371990

ClinVar Variation:

161263

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Gly197Ser	CA023801 NM_001195803.2:c.589G>A