Allele Registry

Canonical Allele Identifier: PA250455

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211647

RCV000237428

RCV000489033

RCV000589051

RCV002363056

RCV004017502

ClinVar Variation:

226329

251352

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly219del	CA023734 NM_000527.5:c.654_656del CA10585042 NM_000527.5:c.655_657del