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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Ser848_Thr868delinsValTyrGlnLysThrThrGluAspGluValHisIleCysHisAsnGlnAspGlyTyrSerTyr;Pro869_Arg870insSer;Asp871_Trp873delinsGlnMetVal;Val875_Trp876delinsLeuGlu]
CA10585872
ENST00000557933.5:c.2540dup