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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.[His837_Ile838insGlyThr;Cys839delinsAlaAspAlaIleTyrArgGlyGlyArgMetLeu;Asn841_Gln842delinsGluHis;Tyr845_Met850delinsAlaAlaGlnGlyIleArgPhe;Ser852_Glu854delinsGlyAsnAspPhe;Asp855_Asp856insLeuProGlnProGlyArgLeuGlnLeuProLeu;Val857_Ala858delinsGlyGlnSerGlyGly]
CA2813590281
NM_001195798.2:c.2511_2512insGGGACTATCGCCGATGCTATCTATCGAGGCGG...