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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Glu58_Ser64delinsValLeuProGlnAspValLeu;Lys66_Cys68delinsGlyArgVal;Gln70_Cys75delinsLeuProArgTrpGluVal;Asp77_Ile81delinsLeu;Arg83_Phe85delinsAla;Cys87_Arg91delinsArgLeu]
CA2497030073
NM_001195799.2:c.171_184del