Canonical Allele Identifier: PA2826212692
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161268
ClinVar RCV Id: RCV000234348 RCV000826170 RCV000775051 RCV002051661 RCV002371991 RCV001843483
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu247Lys
CA023783
NM_001195799.2:c.739G>A