Canonical Allele Identifier: PA100613
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161266
ClinVar RCV Id: RCV000162016 RCV000211583 RCV000775032 RCV000844744 RCV002051659 RCV002433637
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu101Lys
CA023687
NM_000527.5:c.301G>A