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"referenceAllele": "G", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN008091", "geneNCBI_id": 4942, "geneSymbol": "OAT", "hgvs": [ "NM_001171814.2:c.749G>A" ], "proteinEffect": { "hgvs": "NP_001165285.1:p.Trp250Ter", "hgvsWellDefined": "NP_001165285.1:p.Trp250_Phe301delinsAspAlaTrpLysValCysLeuArgLeuArgAspAsnGlyLeuLeuAlaLysProThrHisGlyAspIleIleArgPheAlaProProLeuValIleLysGluAspGluLeuArgGluSerIleGluIleIleAsnLysThrIleLeuSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713386" } ], "type": "nucleotide" }