Allele Registry

Canonical Allele Identifier: PA2826215759

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000210245

RCV000815637

RCV000996761

RCV002051679

RCV002444608

ClinVar Variation:

161286

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Arg583Gln	CA023654 NM_001195800.2:c.1748G>A