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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Gly108_Ala110delinsValTrp;Phe112Arg;Cys114_Trp124delinsLeuProValGlnGlnLeuHisLeuHisProPro;Cys126_Asp129delinsValGlyLeuArgGlnArg;Asp131_Asp137delinsArgLeuArgArgTrpLeuGly]
CA2573050570
NM_001195799.2:c.319_322dup