Allele Registry

Canonical Allele Identifier: PA2826214056

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238445

RCV001523921

RCV001558972

RCV002247687

RCV003372668

ClinVar Variation:

252295

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Ile751Thr	CA040016 NM_001195799.2:c.2252T>C