Canonical Allele Identifier: PA100827
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3686
ClinVar RCV Id: RCV000003871 RCV000161958 RCV000588687 RCV002345224
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser177Leu
CA023715
NM_000527.5:c.530C>T