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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[His923_Ile924insGlyThr;Cys925delinsAlaAspAlaIleTyrArgGlyGlyArgMetLeu;Asn927_Gln928delinsGluHis;Tyr931_Ser935delinsAlaAlaGlnGlyIle;Arg936_Gln937insPheValGlyAsnAspPheAspLeuPro;Met938_Ser940delinsProGlyArg;Leu941_Glu942insGlnLeuProLeu;Asp943Thr;Val945_Ala946delinsGlyGlnSerGlyGly]
CA2813590281
ENST00000252444.10:c.2769_2770insGGGACTATCGCCGATGCTATCTATCGAG...