Allele Registry

Canonical Allele Identifier: PA658804388

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000627169

RCV000775610

RCV001199891

RCV002420657

ClinVar Variation:

523715

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp360His	CA031936 NM_000527.5:c.1078G>C