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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.[Ala166_Gly176delinsGluMetAlaArgMetSerGlyArg;Asp178_Arg183delinsAlaValGlyValPheThr;Arg185_Tyr188delinsSerLysGlyThr;Phe190_Ser194delinsAlaProAlaArgPro;Pro196_Cys197delinsSer;Ala199_His203delinsThr]
CA2695223203
ENST00000557933.5:c.497_521del