Canonical Allele Identifier: PA100315
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183091
ClinVar RCV Id: RCV000161961 RCV000211695 RCV002354407 RCV003581581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys197Arg
CA023725
NM_000527.5:c.589T>C