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"NP_851830.1:p.Cys159_Arg248delinsHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700931" }, { "coordinates": [ { "allele": "A", "end": 930, "referenceAllele": "T", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NR_024048.3:n.930T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701850" } ], "type": "nucleotide" }