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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[His690_Cys698delinsProLeuAlaGlnValTyrLeuArgLeu;Asp700del;Met702_Leu704delinsArgHisAla;Arg706_Cys711delinsGlyGlnGlyHisGluGlu;Thr713_Val719delinsProHisArgGly]
CA16602344
NM_001195798.2:c.2068dup