Allele Registry

Canonical Allele Identifier: PA235462

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000162002

RCV000211609

RCV001034677

ClinVar Variation:

183126

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Arg595Gln	CA023585 NM_000527.5:c.1784G>A