Canonical Allele Identifier: PA100358
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3740
ClinVar RCV Id: RCV000003938 RCV000776469 RCV000825593 RCV002051613 RCV002408448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys261Phe
CA023761
NM_000527.5:c.782G>T