Canonical Allele Identifier: PA2826213313
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 180402
ClinVar RCV Id: RCV000157290 RCV001034638 RCV002390373
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Trp449Arg
CA023507
NM_001195799.2:c.1345T>C
CA404086231
NM_001195799.2:c.1345T>A