Canonical Allele Identifier: PA235412
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183097
ClinVar RCV Id: RCV000161968 RCV000210246 RCV000610848 RCV000776470 RCV002426795 RCV003927530
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu277Lys
CA023775
NM_000527.5:c.829G>A