Allele Registry

Canonical Allele Identifier: PA645380946

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237470

RCV000771548

RCV001589203

RCV002450754

ClinVar Variation:

252360

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Val859Met	CA041346 NM_000527.5:c.2575G>A