{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379917102",
  "communityStandardTitle": [
    "NM_004211.5(SLC6A5):c.1374G>A (p.Trp458Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2137133[alleleid]",
        "alleleId": 2137133,
        "preferredName": "NM_004211.5(SLC6A5):c.1374G>A (p.Trp458Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2087072",
        "RCV": [
          "RCV003007800"
        ],
        "variationId": 2087072
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.20648367G>A?assembly=hg19",
        "id": "chr11:g.20648367G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.20626821G>A?assembly=hg38",
        "id": "chr11:g.20626821G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/912922347",
        "rs": 912922347
      }
    ]
  },
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    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
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          "start": 20626820
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      ],
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "11",
      "coordinates": [
        {
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
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          "end": 20604943,
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          "start": 20604942
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      ],
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
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          "end": 32422,
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      ],
      "hgvs": [
        "NG_013086.1:g.32422G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002709"
    },
    {
      "coordinates": [
        {
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          "end": 32422,
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS616203"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      "geneSymbol": "SLC6A5",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758926",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000525748.6:c.1374G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004211.5:c.1374G>A"
          }
        },
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            "hgvs": "NP_004202.4:p.Trp458Ter"
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        }
      }
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    {
      "coordinates": [
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      ],
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      "geneSymbol": "SLC6A5",
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        "ENST00000298923.11:c.*671G>A"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS254651"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1647,
          "referenceAllele": "G",
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        }
      ],
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      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
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        "hgvsWellDefined": "NP_004202.2:p.Trp458_Cys797delinsGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1314,
          "referenceAllele": "G",
          "start": 1313
        }
      ],
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      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_005253282.1:p.Trp224_Cys563delinsGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1647,
          "referenceAllele": "G",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011518775.1:p.Trp458_Cys797delinsGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989283",
      "coordinates": [
        {
          "allele": "A",
          "end": 1508,
          "referenceAllele": "G",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_001318369.1:c.672G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305298.1:p.Trp224Ter",
        "hgvsWellDefined": "NP_001305298.1:p.Trp224_Cys563delinsGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1647,
          "referenceAllele": "G",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.4:c.1374G>A"
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      "proteinEffect": {
        "hgvs": "NP_004202.3:p.Trp458Ter",
        "hgvsWellDefined": "NP_004202.3:p.Trp458_Cys797delinsGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_017018544.2:c.498G>A"
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      "proteinEffect": {
        "hgvs": "XP_016874033.1:p.Trp166Ter",
        "hgvsWellDefined": "XP_016874033.1:p.Trp166_Cys505delinsGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 571,
          "referenceAllele": "G",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "XM_017018545.2:c.333G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874034.1:p.Trp111Ter",
        "hgvsWellDefined": "XP_016874034.1:p.Trp111_Cys450delinsGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826989283",
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "referenceAllele": "G",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_001318369.2:c.672G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305298.1:p.Trp224Ter",
        "hgvsWellDefined": "NP_001305298.1:p.Trp224_Cys563delinsGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580288106",
      "coordinates": [
        {
          "allele": "A",
          "end": 1439,
          "referenceAllele": "G",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011051",
      "geneNCBI_id": 9152,
      "geneSymbol": "SLC6A5",
      "hgvs": [
        "NM_004211.5:c.1374G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004202.4:p.Trp458Ter",
        "hgvsWellDefined": "NP_004202.4:p.Trp458_Cys797delinsGluLysLeuThrAspAlaThrValTrpLysAspAlaAlaThrGlnIlePhePheSerLeuSerAlaAlaTrpGlyGlyLeuIleThrLeuSerSerTyrAsnLysPheHisAsnAsnCysTyrArgAspThrLeuIleValThrCysThrAsnSerAlaThrSerIlePheAlaGlyPheValIlePheSerValIleGlyPheMetAlaAsnGluArgLysValAsnIleGluAsnValAlaAspGlnGlyProGlyIleAlaPheValValTyrProGluAlaLeuThrArgLeuProLeuSerProPheTrpAlaIleIlePhePheLeuMetLeuLeuThrLeuGlyLeuAspThrMetPheAlaThrIleGluThrIleValThrSerIleSerAspGluPheProLysTyrLeuArgThrHisLysProValPheThrLeuGlyCysCysIleCysPhePheIleMetGlyPheProMetIleThrGlnGlyGlyIleTyrMetPheGlnLeuValAspThrTyrAlaAlaSerTyrAlaLeuValIleIleAlaIlePheGluLeuValGlyIleSerTyrValTyrGlyLeuGlnArgPheCysGluAspIleGluMetMetIleGlyPheGlnProAsnIlePheTrpLysValCysTrpAlaPheValThrProThrIleLeuThrPheIleLeuCysPheSerPheTyrGlnTrpGluProMetThrTyrGlySerTyrArgTyrProAsnTrpSerMetValLeuGlyTrpLeuMetLeuAlaCysSerValIleTrpIleProIleMetPheValIleLysMetHisLeuAlaProGlyArgPheIleGluArgLeuLysLeuValCysSerProGlnProAspTrpGlyProPheLeuAlaGlnHisArgGlyGluArgTyrLysAsnMetIleAspProLeuGlyThrSerSerLeuGlyLeuLysLeuProValLysAspLeuGluLeuGlyThrGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696077",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000525748.6:c.1374G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004211.5:c.1374G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434364.2:p.Trp458Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004202.4:p.Trp458Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}