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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.[Tyr489_Leu495delinsLeuAspArgLeuCysPro;Thr497_Lys504delinsHisCysLeuCysCysGlyTyrGln;Val506_Lys518delinsArgGluGluGluAsnValIleGlnGlyGluArgLeuGln]
CA2580096442
ENST00000557933.5:c.1464_1465del