Allele Registry

Canonical Allele Identifier: PA2826213894

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000352480

RCV000712213

RCV000775088

RCV002923322

RCV003330641

ClinVar Variation:

328053

2057364

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Met661Ile	CA038604 NM_001195799.2:c.1983G>A CA038621 NM_001195799.2:c.1983G>C CA404093934 NM_001195799.2:c.1983G>T