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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Asp98_Val104delinsArgGlyLeuLeuProGlyAlaHis;Thr106_Phe112delinsTrpSerArgGlnLeuProVal;Cys114_Ile120delinsGlnLeuHisLeuHisPro;Gln122_Asp127delinsAlaValGlyLeuArgGln]
CA2580096435
NM_001195799.2:c.292_293del