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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Gln559_Cys571delinsLeuAlaGlnValTyrLeuArgLeu;Asp573del;Met575_Leu577delinsArgHisAla;Arg579_Cys584delinsGlyGlnGlyHisGluGlu;Thr586_Val592delinsProHisArgGly]
CA1139666277
XM_011528011.1:c.1674_1687del