Allele Registry

Canonical Allele Identifier: PA645380260

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237838

ClinVar Variation:

252213

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ala697Pro	CA10585767 NM_000527.5:c.2089G>C