Allele Registry

Canonical Allele Identifier: PA2826213143

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003883

RCV000806811

RCV000985760

RCV002381240

RCV004017226

ClinVar Variation:

3695

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Ala390Thr	CA023445 NM_001195799.2:c.1168G>A