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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Arg124_Asp131delinsGlyThrAlaTrpThrAlaGlnThr;Asp133_Gly137delinsProProAlaArgCys;Asp139_Cys143del;Leu146_Gly149delinsValPro;Phe153_Ile161delinsSerAlaThrAlaProProAla]
CA10584882
ENST00000559340.2:c.369_393del