Allele Registry

Canonical Allele Identifier: PA916000461

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003886

RCV000161997

RCV000587938

RCV002390088

ClinVar Variation:

3698

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Gly549Asp	CA023546 NM_001195798.2:c.1646G>A