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"@id": "http://reg.genome.network/allele/PA2825332078", "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN004193", "geneNCBI_id": 2643, "geneSymbol": "GCH1", "hgvs": [ "NM_001024070.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001019241.1:p.Trp53Ter", "hgvsWellDefined": "NP_001019241.1:p.Trp53_Lys233delinsLysGlyGluArgProArgSerGluGluAspAsnGluLeuAsnLeuProAsnLeuAlaAlaAlaTyrSerSerIleLeuSerSerLeuGlyGluAsnProGlnArgGlnGlyLeuLeuLysThrProTrpArgAlaAlaSerAlaMetGlnPhePheThrLysGlyTyrGlnGluThrIleSerAspValLeuAsnAspAlaIlePheAspGluAspHisAspGluMetValIleValLysAspIleAspMetPheSerMetCysGluHisHisLeuValProPheValGlyLysValHisIleGlyTyrLeuProAsnLysGlnValLeuGlyLeuSerLysLeuAlaArgIleValGluIleTyrSerArgArgLeuGlnValGlnGluArgLeuThrLysGlnIleAlaValAlaIleThrGluAlaLeuArgProAlaGlyValGlyValValValGluAlaThrLysSerAsnLysTyrAsnLysGlyLeuSerProLeuLeuSerSerCysHisLeuPheValAlaIleLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675609" }, { "@id": "http://reg.genome.network/allele/PA915956703", "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN004193", "geneNCBI_id": 2643, "geneSymbol": "GCH1", "hgvs": [ "NM_001024071.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001019242.1:p.Trp53Ter", "hgvsWellDefined": "NP_001019242.1:p.Trp53_Pro213delinsLysGlyGluArgProArgSerGluGluAspAsnGluLeuAsnLeuProAsnLeuAlaAlaAlaTyrSerSerIleLeuSerSerLeuGlyGluAsnProGlnArgGlnGlyLeuLeuLysThrProTrpArgAlaAlaSerAlaMetGlnPhePheThrLysGlyTyrGlnGluThrIleSerAspValLeuAsnAspAlaIlePheAspGluAspHisAspGluMetValIleValLysAspIleAspMetPheSerMetCysGluHisHisLeuValProPheValGlyLysValHisIleGlyTyrLeuProAsnLysGlnValLeuGlyLeuSerLysLeuAlaArgIleValGluIleTyrSerArgArgLeuGlnValGlnGluArgLeuThrLysGlnIleAlaValAlaIleThrGluAlaLeuArgProAlaGlyValGlyValValValGluAlaThrSerAlaGluProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675610" }, { "@id": "http://reg.genome.network/allele/PA2825331830", "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN004193", "geneNCBI_id": 2643, "geneSymbol": "GCH1", "hgvs": [ "NM_001024024.2:c.159G>A" ], "proteinEffect": { "hgvs": "NP_001019195.1:p.Trp53Ter", "hgvsWellDefined": "NP_001019195.1:p.Trp53_Ser250delinsLysGlyGluArgProArgSerGluGluAspAsnGluLeuAsnLeuProAsnLeuAlaAlaAlaTyrSerSerIleLeuSerSerLeuGlyGluAsnProGlnArgGlnGlyLeuLeuLysThrProTrpArgAlaAlaSerAlaMetGlnPhePheThrLysGlyTyrGlnGluThrIleSerAspValLeuAsnAspAlaIlePheAspGluAspHisAspGluMetValIleValLysAspIleAspMetPheSerMetCysGluHisHisLeuValProPheValGlyLysValHisIleGlyTyrLeuProAsnLysGlnValLeuGlyLeuSerLysLeuAlaArgIleValGluIleTyrSerArgArgLeuGlnValGlnGluArgLeuThrLysGlnIleAlaValAlaIleThrGluAlaLeuArgProAlaGlyValGlyValValValGluAlaThrHisMetCysMetValMetArgGlyValGlnLysMetAsnSerLysThrValThrSerThrMetLeuGlyValPheArgGluAspProLysThrArgGluGluPheLeuThrLeuIleArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711428" } ], "type": "nucleotide" }