Canonical Allele Identifier: PA2825208635
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1753763
ClinVar RCV Id: RCV002356208
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp217_Cys222del
CA2580096468
NM_000527.5:c.648_665del