Allele Registry

Canonical Allele Identifier: PA250465

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003885

RCV001175478

ClinVar Variation:

3697

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly546Asp	CA023543 NM_000527.5:c.1637G>A