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}, "referenceSequence": "http://reg.genome.network/refseq/RS271232" }, { "coordinates": [ { "allele": "T", "end": 635, "referenceAllele": "A", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "ENST00000376590.7:c.451A>T" ], "proteinEffect": { "hgvs": "ENSP00000365775.3:p.Lys151Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS271235" }, { "@id": "http://reg.genome.network/allele/PA2579898724", "coordinates": [ { "allele": "T", "end": 680, "referenceAllele": "A", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.4:c.451A>T", "LRG_726t1:c.451A>T" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Lys151Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS031008" }, { "coordinates": [ { "allele": "T", "end": 1517, "referenceAllele": "A", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263458.2:c.574A>T" ], "proteinEffect": { "hgvs": "XP_005263515.1:p.Lys192Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS063811" }, { "coordinates": [ { "allele": "T", "end": 1122, "referenceAllele": "A", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.3:c.451A>T" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Lys151Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS063812" }, { "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "A", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263461.3:c.451A>T" ], "proteinEffect": { "hgvs": "XP_005263518.1:p.Lys151Ter", "hgvsWellDefined": "XP_005263518.1:p.Lys151_Pro656delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063813" }, { "coordinates": [ { "allele": "T", "end": 578, "referenceAllele": "A", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.3:c.451A>T" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Lys151Ter", "hgvsWellDefined": "XP_005263519.1:p.Lys151_Pro656delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063814" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "A", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.2:c.205A>T" ], "proteinEffect": { "hgvs": "XP_005263520.1:p.Lys69Ter", "hgvsWellDefined": "XP_005263520.1:p.Lys69_Pro574delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063815" }, { "coordinates": [ { "allele": "T", "end": 1514, "referenceAllele": "A", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.1:c.571A>T" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Lys191Ter", "hgvsWellDefined": "XP_011539797.1:p.Lys191_Pro696delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108432" }, { "coordinates": [ { "allele": "T", "end": 1517, "referenceAllele": "A", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.1:c.574A>T" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Lys192Ter", "hgvsWellDefined": "XP_011539798.1:p.Lys192_Ser683delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS108433" }, { "@id": "http://reg.genome.network/allele/PA2573202122", "coordinates": [ { "allele": "T", "end": 737, "referenceAllele": "A", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.1:c.574A>T" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Lys192Ter", "hgvsWellDefined": "NP_001317287.1:p.Lys192_Pro697delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516743" }, { "coordinates": [ { "allele": "T", "end": 1067, "referenceAllele": "A", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263460.5:c.451A>T" ], "proteinEffect": { "hgvs": "XP_005263517.1:p.Lys151Ter", "hgvsWellDefined": "XP_005263517.1:p.Lys151_Pro656delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535677" }, { "coordinates": [ { "allele": "T", "end": 568, "referenceAllele": "A", "start": 567 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263462.4:c.451A>T" ], "proteinEffect": { "hgvs": "XP_005263519.1:p.Lys151Ter", "hgvsWellDefined": "XP_005263519.1:p.Lys151_Pro656delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535678" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "A", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_005263463.4:c.205A>T" ], "proteinEffect": { "hgvs": "XP_005263520.1:p.Lys69Ter", "hgvsWellDefined": "XP_005263520.1:p.Lys69_Pro574delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535679" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "A", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541495.3:c.571A>T" ], "proteinEffect": { "hgvs": "XP_011539797.1:p.Lys191Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS554458" }, { "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "A", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_011541496.3:c.574A>T" ], "proteinEffect": { "hgvs": "XP_011539798.1:p.Lys192Ter", "hgvsWellDefined": "XP_011539798.1:p.Lys192_Ser683delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAlaHisProGluCysGluArgAsnGlyGlySerMetThrLeuArgProAspAlaLeuArgTrpSerHisSerCysProAlaPheLeuLeuHisSerAlaAlaSerLeuGlyAsnSerThrLeuLeuArgValSerProThrProAlaSerThrProProProAspAsnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554459" }, { "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "A", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_017001328.2:c.574A>T" ], "proteinEffect": { "hgvs": "XP_016856817.1:p.Lys192Ter", "hgvsWellDefined": "XP_016856817.1:p.Lys192_Pro647delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS557530" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "A", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XM_024447198.1:c.205A>T" ], "proteinEffect": { "hgvs": "XP_024302966.1:p.Lys69Ter", "hgvsWellDefined": "XP_024302966.1:p.Lys69_Pro574delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580792" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "A", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "XR_002956640.1:n.1318A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602779" }, { "@id": "http://reg.genome.network/allele/PA2579898724", "coordinates": [ { "allele": "T", "end": 541, "referenceAllele": "A", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_005957.5:c.451A>T" ], "proteinEffect": { "hgvs": "NP_005948.3:p.Lys151Ter", "hgvsWellDefined": "NP_005948.3:p.Lys151_Pro656delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376590.9:c.451A>T" }, "RefSeq": { "hgvs": "NM_005957.5:c.451A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365775.3:p.Lys151Ter" }, "RefSeq": { "hgvs": "NP_005948.3:p.Lys151Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573202122", "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "A", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN007436", "geneNCBI_id": 4524, "geneSymbol": "MTHFR", "hgvs": [ "NM_001330358.2:c.574A>T" ], "proteinEffect": { "hgvs": "NP_001317287.1:p.Lys192Ter", "hgvsWellDefined": "NP_001317287.1:p.Lys192_Pro697delinsAsnIleMetAlaLeuArgGlyAspProIleGlyAspGlnTrpGluGluGluGluGlyGlyPheAsnTyrAlaValAspLeuValLysHisIleArgSerGluPheGlyAspTyrPheAspIleCysValAlaGlyTyrProLysGlyHisProGluAlaGlySerPheGluAlaAspLeuLysHisLeuLysGluLysValSerAlaGlyAlaAspPheIleIleThrGlnLeuPhePheGluAlaAspThrPhePheArgPheValLysAlaCysThrAspMetGlyIleThrCysProIleValProGlyIlePheProIleGlnGlyTyrHisSerLeuArgGlnLeuValLysLeuSerLysLeuGluValProGlnGluIleLysAspValIleGluProIleLysAspAsnAspAlaAlaIleArgAsnTyrGlyIleGluLeuAlaValSerLeuCysGlnGluLeuLeuAlaSerGlyLeuValProGlyLeuHisPheTyrThrLeuAsnArgGluMetAlaThrThrGluValLeuLysArgLeuGlyMetTrpThrGluAspProArgArgProLeuProTrpAlaLeuSerAlaHisProLysArgArgGluGluAspValArgProIlePheTrpAlaSerArgProLysSerTyrIleTyrArgThrGlnGluTrpAspGluPheProAsnGlyArgTrpGlyAsnSerSerSerProAlaPheGlyGluLeuLysAspTyrTyrLeuPheTyrLeuLysSerLysSerProLysGluGluLeuLeuLysMetTrpGlyGluGluLeuThrSerGluGluSerValPheGluValPheValLeuTyrLeuSerGlyGluProAsnArgAsnGlyHisLysValThrCysLeuProTrpAsnAspGluProLeuAlaAlaGluThrSerLeuLeuLysGluGluLeuLeuArgValAsnArgGlnGlyIleLeuThrIleAsnSerGlnProAsnIleAsnGlyLysProSerSerAspProIleValGlyTrpGlyProSerGlyGlyTyrValPheGlnLysAlaTyrLeuGluPhePheThrSerArgGluThrAlaGluAlaLeuLeuGlnValLeuLysLysTyrGluLeuArgValAsnTyrHisLeuValAsnValLysGlyGluAsnIleThrAsnAlaProGluLeuGlnProAsnAlaValThrTrpGlyIlePheProGlyArgGluIleIleGlnProThrValValAspProValSerPheMetPheTrpLysAspGluAlaPheAlaLeuTrpIleGluArgTrpGlyLysLeuTyrGluGluGluSerProSerArgThrIleIleGlnTyrIleHisAspAsnTyrPheLeuValAsnLeuValAspAsnAspPheProLeuAspAsnCysLeuTrpGlnValValGluAspThrLeuGluLeuLeuAsnArgProThrGlnAsnAlaArgGluThrGluAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718659" } ], "type": "nucleotide" }