Canonical Allele Identifier: PA2826211489
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183085
ClinVar RCV Id: RCV000161954 RCV000211613 RCV000454392 RCV001186038 RCV002453561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp118Tyr
CA023697
NM_001195798.2:c.352G>T