Allele Registry

Canonical Allele Identifier: PA099966

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237920

RCV000238314

RCV001228564

RCV002051658

RCV002305450

RCV002444605

ClinVar Variation:

161265

252341

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asn825Lys	CA023675 NM_000527.5:c.2475C>G CA040801 NM_000527.5:c.2475C>A