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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.[Thr236_Cys237delinsArgVal;Gln239_Asn243delinsGlySerArgHis;Glu245_Cys252delinsGlnProAlaLeuArg;Glu254Pro;Phe256_Gln257delinsGlyTrp;Asp259_Cys265delinsGlnValProVal]
CA2695238674
XM_011528011.1:c.688_706dup