Allele Registry

Canonical Allele Identifier: PA100290

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238354

RCV000478384

RCV000791359

RCV002338788

ClinVar Variation:

251277

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys173Trp	CA10584968 NM_000527.5:c.519C>G