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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[His659_Ile660insGlyThr;Cys661delinsAlaAspAlaIleTyrArgGlyGlyArgMetLeu;Asn663_Gln664delinsGluHis;Tyr667_Ser671delinsAlaAlaGlnGlyIle;Arg672_Gln673insPheValGlyAsnAspPheAspLeuPro;Met674_Ser676delinsProGlyArg;Leu677_Glu678insGlnLeuProLeu;Asp679Thr;Val681_Ala682delinsGlyGlnSerGlyGly]
CA2813590281
NM_001195803.2:c.1977_1978insGGGACTATCGCCGATGCTATCTATCGAGGCGG...