Allele Registry

Canonical Allele Identifier: PA645375776

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237176

RCV000771221

RCV001788071

RCV002460059

ClinVar Variation:

225402

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Arg115His	CA043240 NM_000527.5:c.344G>A