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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Glu228_Val233delinsLeuThrArgLysThr;Thr235_Arg237delinsLeuTrpPro;Asp239_Cys243delinsValAlaLeuThrAsn;Asp245_Gly251delinsSerAlaLeuMetGluThrAla;Arg253_Arg257delinsMetAlaAlaGlySerValThr]
CA913188996
XM_011528010.2:c.677_681dup