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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Asp588_Lys590delinsGlyTyrGln;Val592_Arg599delinsArgGluGluGluAsnValIleGlnGly;Asn601_Ser603delinsArgLeuGlnAla;Pro605delinsGlyHis;Ala607_Val613delinsGlyGlySerCysSerTrpLeu;Gly615_Phe616del]
CA10585484
ENST00000252444.10:c.1760dup