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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Cys351_Val354delinsLeuGlnGlyCys;Ser356_Tyr359delinsLeuHisArg;Phe361_Val368delinsProLeuLeuHisGlnProAla;Lys370_Leu373delinsGlyGlnGluAsp;Arg375_Ser376delinsAlaGlyPro;Tyr378_Ser380delinsArgValHisGln]
CA10585336
NM_001195799.2:c.1051dup