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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Gln686_Cys698delinsLeuAlaGlnValTyrLeuArgLeu;Asp700del;Met702_Leu704delinsArgHisAla;Arg706_Cys711delinsGlyGlnGlyHisGluGlu;Thr713_Val719delinsProHisArgGly]
CA1139666277
ENST00000558518.6:c.2055_2068del