Allele Registry

Canonical Allele Identifier: PA916001067

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000352480

RCV000712213

RCV000775088

RCV002923322

RCV003330641

ClinVar Variation:

328053

2057364

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Met702Ile	CA038604 NM_001195798.2:c.2106G>A CA038621 NM_001195798.2:c.2106G>C CA404093934 NM_001195798.2:c.2106G>T