Allele Registry

Canonical Allele Identifier: PA2826212457

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211647

RCV000237428

RCV000489033

RCV000589051

RCV002363056

RCV004017502

ClinVar Variation:

226329

251352

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Gly178del	CA023734 NM_001195799.2:c.531_533del CA10585042 NM_001195799.2:c.532_534del