Canonical Allele Identifier: PA2826215560
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 633289
ClinVar RCV Id: RCV000781502 RCV001825537 RCV002501019
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Arg494Lys
CA404093337
NM_001195800.2:c.1481G>A