Canonical Allele Identifier: PA2826213230
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183113
ClinVar RCV Id: RCV000161985 RCV000237193 RCV001804888 RCV003235078
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly420Cys
CA023475
NM_001195799.2:c.1258G>T