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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.[Pro105_Lys107delinsLeu;Cys109_Ser110delinsPro;Glu113_Ser123delinsValLeuProGlyArgValSerLeuPro;Gln125_Phe126delinsTrpGlu;Cys128_Asp129delinsHisLeu;Asp131_Cys134delinsAlaValArgLeu]
CA2830773955
ENST00000559340.2:c.313_313+1insTGAC