Allele Registry

Canonical Allele Identifier: PA916001062

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000182344

RCV000238290

RCV000775087

RCV002415774

RCV003477646

ClinVar Variation:

200923

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp700Asn	CA023633 NM_001195798.2:c.2098G>A