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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.[Trp569_Leu581delinsTyrProGlnGlnHisLeuLeuAspArgLeuCysPro;Thr583_Lys590delinsHisCysLeuCysCysGlyTyrGln;Val592_Arg599delinsArgGluGluGluAsnValIleGln]
CA2695228181
ENST00000252444.10:c.1706_1707del