Allele Registry

Canonical Allele Identifier: PA235475

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000030134

RCV000162011

RCV000247593

RCV000771082

RCV002426526

ClinVar Variation:

36461

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Thr726Ile	CA023649 NM_000527.5:c.2177C>T