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"referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NM_181313.4:c.50G>A" ], "proteinEffect": { "hgvs": "NP_851830.1:p.Trp17Ter", "hgvsWellDefined": "NP_851830.1:p.Trp17_Arg248delinsThrLeuAlaSerSerValValMetGlyLeuValGlyThrTyrSerCysPheTrpThrLysTyrMetAsnHisLeuThrValHisAsnArgGluValLeuTyrGluLeuIleGluLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700931" }, { "coordinates": [ { "allele": "A", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN011577", "geneNCBI_id": 6901, "geneSymbol": "TAFAZZIN", "hgvs": [ "NR_024048.3:n.355G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS701850" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN002957", "geneNCBI_id": 1774, "geneSymbol": "DNASE1L1", "hgvs": [ "NM_001009932.3:c.-433C>T" ], "proteinEffect": { "hgvs": "NP_001009932.1:n.-433C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS711282" }, { "coordinates": [ { "allele": "T", "end": 209, "referenceAllele": "C", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN002957", "geneNCBI_id": 1774, "geneSymbol": "DNASE1L1", "hgvs": [ "NM_001009934.3:c.-90C>T" ], "proteinEffect": { "hgvs": "NP_001009934.1:n.-90C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS711283" } ], "type": "nucleotide" }