Allele Registry

Canonical Allele Identifier: PA916000633

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000162001

RCV000172964

RCV000587007

RCV000844730

RCV002051664

RCV002399517

RCV003330084

ClinVar Variation:

161271

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly592Glu	CA023577 NM_001195798.2:c.1775G>A