Allele Registry

Canonical Allele Identifier: PA2826213983

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000210245

RCV000815637

RCV000996761

RCV002051679

RCV002444608

ClinVar Variation:

161286

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Arg710Gln	CA023654 NM_001195799.2:c.2129G>A