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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Gln434_Leu439delinsHisProGlyProArgArg;Val441_Thr451delinsGlyCysGlyLeuAspProGlnGlnHisLeuLeu;Ser453_Leu455delinsArgLeuCysPro;Thr457_Ala461delinsHisCysLeuCysCys]
CA645509280
ENST00000560467.2:c.1293_1294delinsGGACAT