Canonical Allele Identifier: PA915998619
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 200919
ClinVar RCV Id: RCV000589041 RCV000826174 RCV000237811 RCV001283997 RCV002354478
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys197Tyr
CA023730
NM_001195798.2:c.590G>A