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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Ser110_Phe114delinsLeuProGly;Cys116_Ser123delinsValSerLeuPro;Gln125_Phe126delinsTrpGlu;Cys128_Asp129delinsHisLeu;Asp131_Cys134delinsAlaValArg;Asp136_Asp139del]
CA10584858
ENST00000560467.2:c.327dup