Allele Registry

Canonical Allele Identifier: PA916000239

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237188

ClinVar Variation:

251869

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Val498Phe	CA10585479 NM_001195798.2:c.1492G>T