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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.[Lys566_Cys571delinsAsnLeuArgLeu;Asp573del;Met575_Leu577delinsArgHisAla;Arg579_Thr586delinsGlyGlnGlyHis;Ala588del;Ala590_Thr597delinsLeuProHisArgGly]
CA2497030147
XM_011528011.1:c.1698_1702del