Allele Registry

Canonical Allele Identifier: PA916001044

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237838

ClinVar Variation:

252213

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Ala697Pro	CA10585767 NM_001195798.2:c.2089G>C