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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.[Asp225_Val231delinsArgGlyLeuLeuProGlyAlaHis;Thr233_Phe239delinsTrpSerArgGlnLeuProVal;Cys241_Ile247delinsGlnLeuHisLeuHisPro;Gln249_Asp254delinsAlaValGlyLeuArgGln]
CA2580096435
ENST00000252444.10:c.673_674del