Allele Registry

Canonical Allele Identifier: PA916000234

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000161989

RCV000237459

RCV000590270

RCV002051678

RCV002390312

ClinVar Variation:

161285

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp492Asn	CA023512 NM_001195798.2:c.1474G>A