Canonical Allele Identifier: PA2826213725
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 200922
ClinVar RCV Id: RCV000238444 RCV001852309 RCV002054165 RCV002408795
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val598Asp
CA023607
NM_001195799.2:c.1793T>A