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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.[Thr194_Phe200delinsAspValLeuProGly;Cys202_Ser209delinsValSerLeuPro;Gln211_Phe212delinsTrpGlu;Cys214_Asp215delinsHisLeu;Asp217_Cys220delinsAlaValArg;Asp222del]
CA10584853
ENST00000252444.10:c.578dup