Allele Registry

Canonical Allele Identifier: PA916000142

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237957

RCV003581626

ClinVar Variation:

251846

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp482Gly	CA10585456 NM_001195798.2:c.1445A>G