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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Lys225_Ala232delinsArgLysThrAlaLeuTrpProPro;Thr235_His250delinsLeuThrAsnSerSerAlaLeuMetGluThrAlaSerMetAlaAla;Arg253_Arg257delinsValThrGly]
CA16602309
NM_001195798.2:c.674_683del