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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Cys392_Val395delinsLeuGlnGlyCys;Ser397_Tyr400delinsLeuHisArg;Phe402_Val409delinsProLeuLeuHisGlnProAla;Lys411_Leu414delinsGlyGlnGluAsp;Arg416_Ser417delinsAlaGlyPro;Tyr419_Ser421delinsArgValHisGln]
CA10585336
ENST00000557933.5:c.1174dup