Canonical Allele Identifier: PA2826212931
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36452
ClinVar RCV Id: RCV000030124 RCV000775055 RCV002051646 RCV002426524
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp321Ala
CA023415
NM_001195799.2:c.962A>C