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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Glu113_Asp118delinsValGlySerAlaSerLeu;Lys120_Arg124delinsSerSerSerValThr;Phe126_Ala141delinsThrGlyThrAlaTrpThrAlaGlnThrArgProProAlaArgCys;Cys143del;Val145_Thr147del]
CA10584860
NM_000527.5:c.338_353del