Allele Registry

Canonical Allele Identifier: PA645378356

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211588

RCV000238117

RCV002519847

ClinVar Variation:

226353

251767

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Val429Leu	CA10576303 NM_000527.5:c.1285G>C CA10585386 NM_000527.5:c.1285G>T