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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Leu352_Ala353delinsPro;Trp356_Leu368delinsProGlnGlnHisLeuLeuAspArgLeuCysPro;Thr370_Lys377delinsHisCysLeuCysCysGlyTyrGln;Val379_Phe385delinsArgGluGluGluAsnValIleGln]
CA2497030064
ENST00000545707.5:c.1053_1067delinsTCCAGTA