Allele Registry

Canonical Allele Identifier: PA645377556

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000497207

RCV000775605

RCV003323571

ClinVar Variation:

431515

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Thr291Pro	CA029979 NM_000527.5:c.871A>C