Allele Registry

Canonical Allele Identifier: PA250462

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003883

RCV000806811

RCV000985760

RCV002381240

RCV004017226

ClinVar Variation:

3695

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ala431Thr	CA023445 NM_000527.5:c.1291G>A