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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.[Leu545_Leu555delinsGluGlnTrpArgLeuProValSerValProProCys;Pro558Asp;Ile560_Asn561delinsPro;His563_Cys571delinsLeuAlaGlnValTyrLeuArgLeu;Asp573_Gly574delinsGlyArg]
CA10585728
XM_011528011.1:c.1632_1633del