Allele Registry

Canonical Allele Identifier: PA645378351

Gene: LDLR HGNC NCBI

ClinVar Allele:

246077

ClinVar RCV:

RCV000237865

RCV001350143

RCV002446478

ClinVar Variation:

251763

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Leu426Pro	CA10585383 NM_000527.5:c.1277T>C