Canonical Allele Identifier: PA2826212893
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36450
ClinVar RCV Id: RCV000030122 RCV000413322 RCV000722113 RCV002408481 RCV003952374
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys311Tyr
CA023408
NM_001195799.2:c.932G>A