Allele Registry

Canonical Allele Identifier: PA211616

Gene: LDLR HGNC NCBI

ClinVar Allele:

171203

ClinVar RCV:

RCV000237748

RCV001176040

RCV002051673

RCV002307407

RCV002444606

ClinVar Variation:

161280

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly287Ser	CA023782 NM_000527.5:c.859G>A