Canonical Allele Identifier: PA211622
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161283
ClinVar RCV Id: RCV000237987 RCV001181606 RCV002051676 RCV002223790 RCV002326857 RCV003488400
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr389Met
CA023424
NM_000527.5:c.1166C>T