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} }, { "@id": "http://reg.genome.network/allele/PA2825356321", "coordinates": [ { "allele": "T", "end": 1134, "referenceAllele": "G", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001031806.2:c.913G>T" ], "proteinEffect": { "hgvs": "NP_001026976.1:p.Glu305Ter", "hgvsWellDefined": "NP_001026976.1:p.Glu305_Arg508delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675748" }, { "@id": "http://reg.genome.network/allele/PA2828312948", "coordinates": [ { "allele": "T", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369136.1:c.913G>T" ], "proteinEffect": { "hgvs": "NP_001356065.1:p.Glu305Ter", "hgvsWellDefined": "NP_001356065.1:p.Glu305_Arg508delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691563" }, { "@id": "http://reg.genome.network/allele/PA2828313256", "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.1:c.913G>T" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Glu305Ter", "hgvsWellDefined": "NP_001356066.1:p.Glu305_Arg508delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691564" }, { "@id": "http://reg.genome.network/allele/PA2828313565", "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.1:c.913G>T" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Glu305Ter", "hgvsWellDefined": "NP_001356067.1:p.Glu305_Tyr485delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691565" }, { "@id": "http://reg.genome.network/allele/PA2828313876", "coordinates": [ { "allele": "T", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369139.1:c.913G>T" ], "proteinEffect": { "hgvs": "NP_001356068.1:p.Glu305Ter", "hgvsWellDefined": "NP_001356068.1:p.Glu305_Tyr485delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691566" }, { "@id": "http://reg.genome.network/allele/PA2580229557", "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "G", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.1:c.913G>T" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Glu305Ter", "hgvsWellDefined": "NP_001356075.1:p.Glu305_Phe424delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691568" }, { "@id": "http://reg.genome.network/allele/PA2828314289", "coordinates": [ { "allele": "T", "end": 1175, "referenceAllele": "G", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.1:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001356077.1:p.Glu112Ter", "hgvsWellDefined": "NP_001356077.1:p.Glu112_Tyr292delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691569" }, { "@id": "http://reg.genome.network/allele/PA2828313256", "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369137.2:c.913G>T" ], "proteinEffect": { "hgvs": "NP_001356066.1:p.Glu305Ter", "hgvsWellDefined": "NP_001356066.1:p.Glu305_Arg508delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysLysTyrGlnAlaValLeuArgArgLysAlaLeuLeuIlePheLeuValValHisArgLeuArgTrpSerSerLysGlnArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721137" }, { "@id": "http://reg.genome.network/allele/PA2828313565", "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369138.2:c.913G>T" ], "proteinEffect": { "hgvs": "NP_001356067.1:p.Glu305Ter", "hgvsWellDefined": "NP_001356067.1:p.Glu305_Tyr485delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721138" }, { "@id": "http://reg.genome.network/allele/PA2580229557", "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369146.2:c.913G>T" ], "proteinEffect": { "hgvs": "NP_001356075.1:p.Glu305Ter", "hgvsWellDefined": "NP_001356075.1:p.Glu305_Phe424delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlyArgIleLeuLeuLysAsnAspProValGlnProProSerAlaSerThrGluLeuPheLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721139" }, { "@id": "http://reg.genome.network/allele/PA2828314289", "coordinates": [ { "allele": "T", "end": 1189, "referenceAllele": "G", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN000403", "geneNCBI_id": 224, "geneSymbol": "ALDH3A2", "hgvs": [ "NM_001369148.2:c.334G>T" ], "proteinEffect": { "hgvs": "NP_001356077.1:p.Glu112Ter", "hgvsWellDefined": "NP_001356077.1:p.Glu112_Tyr292delinsThrAspGluAlaThrArgTyrIleAlaProThrValLeuThrAspValAspProLysThrLysValMetGlnGluGluIlePheGlyProIleLeuProIleValProValLysAsnValAspGluAlaIleAsnPheIleAsnGluArgGluLysProLeuAlaLeuTyrValPheSerHisAsnHisLysLeuIleLysArgMetIleAspGluThrSerSerGlyGlyValThrGlyAsnAspValIleMetHisPheThrLeuAsnSerPheProPheGlyGlyValGlySerSerGlyMetGlyAlaTyrHisGlyLysHisSerPheAspThrPheSerHisGlnArgProCysLeuLeuLysSerLeuLysArgGluGlyAlaAsnLysLeuArgTyrProProAsnSerGlnSerLysValAspTrpGlyLysPhePheLeuLeuLysArgPheAsnLysGluLysLeuGlyLeuLeuLeuLeuThrPheLeuGlyIleValAlaAlaValLeuValLysAlaGluTyrTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721140" } ], "type": "nucleotide" }