Allele Registry

Canonical Allele Identifier: PA916001152

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000210245

RCV000815637

RCV000996761

RCV002051679

RCV002444608

ClinVar Variation:

161286

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Arg751Gln	CA023654 NM_001195798.2:c.2252G>A