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"http://reg.genome.network/refseq/RS762965" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636743.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000489725.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000489725.1:p.Trp59_Gln499delinsGlyGlyArgGlyGluIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763348" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636808.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000490833.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000490833.1:p.Trp59_Phe77delinsGlyGlyArgGlyGluGlyLeuArgPheLeuTyrMetIleIleIleLeuLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763396" }, { "coordinates": [ { "allele": "A", "end": 177, "referenceAllele": "G", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636872.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000490919.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000490919.1:p.Trp59_Ala97delinsGlyGlyArgGlyGluPheAlaSerLeuAspValProLysSerCysHisValValArgTrpAlaValAsnSerPheGluAspTrpIlePheSerIleSerProLeuProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763447" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636879.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000490811.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000490811.1:p.Trp59_Gln554delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerCysCysValValGlnAlaGlyLeuLysLeuLeuSerSerArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763452" }, { "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "G", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000636886.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000490371.1:p.Trp59Ter", "hgvsWellDefined": 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"ENSP00000489895.1:p.Trp59_Gln479delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763692" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637272.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000489686.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000489686.1:p.Trp59_Gln536delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763744" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637782.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000490024.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000490024.1:p.Trp59_Thr521delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764103" }, { "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "G", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000637964.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000490291.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000490291.1:p.Trp59Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS764243" }, { "coordinates": [ { "allele": "A", "end": 208, "referenceAllele": "G", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000638008.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000490400.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000490400.1:p.Trp59_Phe77delinsGlyGlyArgGlyGluGlyLeuArgPheLeuTyrMetIleIleIleLeuLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764271" }, { "coordinates": [ { "allele": "A", "end": 397, "referenceAllele": "G", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000409134.7:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000387123.3:p.Trp59Ter", "hgvsWellDefined": "ENSP00000387123.3:p.Trp59_Gln539delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS281287" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000412186.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000414536.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000414536.1:p.Trp59_Phe77delinsGlyGlyArgGlyGluGlyLeuArgPheLeuTyrMetIleIleIleLeuLeuPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282497" }, { "coordinates": [ { "allele": "A", "end": 197, "referenceAllele": "G", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000413020.5:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000487936.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000487936.1:p.Trp59_Lys294delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGluGlnTrpLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282872" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000447989.6:c.258G>A" ], "proteinEffect": { "hgvs": "ENSP00000414132.2:p.Trp86Ter", "hgvsWellDefined": "ENSP00000414132.2:p.Trp86_Gln502delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299515" }, { "coordinates": [ { "allele": "A", "end": 177, "referenceAllele": "G", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000458249.5:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000403929.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000403929.1:p.Trp59_Ala97delinsGlyGlyArgGlyGluPheAlaSerLeuAspValProLysSerCysHisValValArgTrpAlaValAsnSerPheGluAspTrpIlePheSerIleSerProLeuProArgAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304317" }, { "coordinates": [ { "allele": "A", "end": 91, "referenceAllele": "G", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000503281.5:c.91G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS335632" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000509270.1:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000449318.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000449318.1:p.Trp59Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS340068" }, { "coordinates": [ { "allele": "A", "end": 50, "referenceAllele": "G", "start": 49 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000509459.5:c.50G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS340215" }, { "coordinates": [ { "allele": "A", "end": 171, "referenceAllele": "G", "start": 170 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000510111.6:c.171G>A" ], "proteinEffect": { "hgvs": "ENSP00000447388.1:p.Trp57Ter", "hgvsWellDefined": "ENSP00000447388.1:p.Trp57_Leu240del" }, "referenceSequence": "http://reg.genome.network/refseq/RS340714" }, { "coordinates": [ { "allele": "A", "end": 132, "referenceAllele": "G", "start": 131 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000511266.5:n.132G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS341573" }, { "coordinates": [ { "allele": "A", "end": 315, "referenceAllele": "G", "start": 314 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "ENST00000553117.5:c.177G>A" ], "proteinEffect": { "hgvs": "ENSP00000448593.1:p.Trp59Ter", "hgvsWellDefined": "ENSP00000448593.1:p.Trp59_Gln475delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS369644" }, { "@id": "http://reg.genome.network/allele/PA645492136", "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.4:c.177G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Trp59Ter", "hgvsWellDefined": "NP_001173.2:p.Trp59_Gln539delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015905" }, { "@id": "http://reg.genome.network/allele/PA2826253156", "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.1:c.93G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Trp31Ter", "hgvsWellDefined": "NP_001188306.1:p.Trp31_Gln511delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017329" }, { "coordinates": [ { "allele": "A", "end": 369, "referenceAllele": "G", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.1:c.258G>A" ], "proteinEffect": { "hgvs": "NP_001189333.1:p.Trp86Ter", "hgvsWellDefined": "NP_001189333.1:p.Trp86_Gln502delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017389" }, { "@id": "http://reg.genome.network/allele/PA645492136", "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001182.5:c.177G>A" ], "proteinEffect": { "hgvs": "NP_001173.2:p.Trp59Ter", "hgvsWellDefined": "NP_001173.2:p.Trp59_Gln539delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663920", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000409134.8:c.177G>A" }, "RefSeq": { "hgvs": "NM_001182.5:c.177G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387123.3:p.Trp59Ter" }, "RefSeq": { "hgvs": "NP_001173.2:p.Trp59Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826253156", "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001201377.2:c.93G>A" ], "proteinEffect": { "hgvs": "NP_001188306.1:p.Trp31Ter", "hgvsWellDefined": "NP_001188306.1:p.Trp31_Gln511delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuPheIleHisGluSerIleHisAspGluValValAsnArgLeuLysLysAlaTyrAlaGlnIleArgValGlyAsnProTrpAspProAsnValLeuTyrGlyProLeuHisThrLysGlnAlaValSerMetPheLeuGlyAlaValGluGluAlaLysLysGluGlyGlyThrValValTyrGlyGlyLysValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679672" }, { "@id": "http://reg.genome.network/allele/PA916004083", "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN000877", "geneNCBI_id": 501, "geneSymbol": "ALDH7A1", "hgvs": [ "NM_001202404.2:c.177G>A" ], "proteinEffect": { "hgvs": "NP_001189333.2:p.Trp59Ter", "hgvsWellDefined": "NP_001189333.2:p.Trp59_Gln475delinsGlyGlyArgGlyGluValIleThrThrTyrCysProAlaAsnAsnGluProIleAlaArgValArgGlnAlaSerValAlaAspTyrGluGluThrValLysLysAlaArgGluAlaTrpLysIleTrpAlaAspIleProAlaProLysArgGlyGluIleValArgGlnIleGlyAspAlaLeuArgGluLysIleGlnValLeuGlySerLeuValSerLeuGluMetGlyLysIleLeuValGluGlyValGlyGluValGlnGluTyrValAspIleCysAspTyrAlaValGlyLeuSerArgMetIleGlyGlyProIleLeuProSerGluArgSerGlyHisAlaLeuIleGluGlnTrpAsnProValGlyLeuValGlyIleIleThrAlaPheAsnPheProValAlaValTyrGlyTrpAsnAsnAlaIleAlaMetIleCysGlyAsnValCysLeuTrpLysGlyAlaProThrThrSerLeuIleSerValAlaValThrLysIleIleAlaLysValLeuGluAspAsnLysLeuProGlyAlaIleCysSerLeuThrCysGlyGlyAlaAspIleGlyThrAlaMetAlaLysAspGluArgValAsnLeuLeuSerPheThrGlySerThrGlnValGlyLysGlnValGlyLeuMetValGlnGluArgPheGlyArgSerLeuLeuGluLeuGlyGlyAsnAsnAlaIleIleAlaPheGluAspAlaAspLeuSerLeuValValProSerAlaLeuPheAlaAlaValGlyThrAlaGlyGlnArgCysThrThrAlaArgArgLeuValMetAspArgProGlyAsnTyrValGluProThrIleValThrGlyLeuGlyHisAspAlaSerIleAlaHisThrGluThrPheAlaProIleLeuTyrValPheLysPheLysAsnGluGluGluValPheAlaTrpAsnAsnGluValLysGlnGlyLeuSerSerSerIlePheThrLysAspLeuGlyArgIlePheArgTrpLeuGlyProLysGlySerAspCysGlyIleValAsnValAsnIleProThrSerGlyAlaGluIleGlyGlyAlaPheGlyGlyGluLysHisThrGlyGlyGlyArgGluSerGlySerAspAlaTrpLysGlnTyrMetArgArgSerThrCysThrIleAsnTyrSerLysAspLeuProLeuAlaGlnGlyIleLysPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679696" } ], "type": "nucleotide" }