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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.[Leu565_Ala566delinsPro;Trp569_Leu581delinsProGlnGlnHisLeuLeuAspArgLeuCysPro;Thr583_Lys590delinsHisCysLeuCysCysGlyTyrGln;Val592_Phe598delinsArgGluGluGluAsnValIleGln]
CA2497030064
ENST00000252444.10:c.1692_1706delinsTCCAGTA