Allele Registry

Canonical Allele Identifier: PA2826213628

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000162003

RCV000211562

RCV000791434

RCV002051657

RCV002247540

RCV002408656

ClinVar Variation:

161264

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Ala565Ser	CA023592 NM_001195799.2:c.1693G>T