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  "@id": "http://reg.genome.network/allele/CA407964142",
  "communityStandardTitle": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2785607",
        "RCV": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1486271481",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS273564"
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      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Trp98Ter",
        "hgvsWellDefined": "NP_212134.3:p.Trp98_Ala469delinsValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.3:c.293G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Trp98Ter",
        "hgvsWellDefined": "XP_005260712.1:p.Trp98_Ala469delinsValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_011529148.1:c.293G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527450.1:p.Trp98Ter",
        "hgvsWellDefined": "XP_011527450.1:p.Trp98_Ala469delinsValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_005260655.4:c.293G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260712.1:p.Trp98Ter",
        "hgvsWellDefined": "XP_005260712.1:p.Trp98_Ala469delinsValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "XM_024451821.1:c.293G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307589.1:p.Trp98Ter",
        "hgvsWellDefined": "XP_024307589.1:p.Trp98_Ala469delinsValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741996939",
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_033409.4:c.293G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Trp98Ter",
        "hgvsWellDefined": "NP_212134.3:p.Trp98_Ala469delinsValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.293G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.293G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494193.1:p.Trp98Ter"
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Trp98Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828374850",
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370085.1:c.293G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357014.1:p.Trp98Ter",
        "hgvsWellDefined": "NP_001357014.1:p.Trp98_Ala469delinsValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828375203",
      "coordinates": [
        {
          "allele": "A",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370086.1:c.293G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357015.1:p.Trp98Ter",
        "hgvsWellDefined": "NP_001357015.1:p.Trp98_Ala469delinsValLeuAspGlyHisHisSerIleAlaPheLeuValLeuThrPhePheLeuAlaLeuValAspCysThrSerSerValThrPheLeuProPheMetSerArgLeuProThrTyrTyrLeuThrThrPhePheValGlyGluGlyLeuSerGlyLeuLeuProAlaLeuValAlaLeuAlaGlnGlySerGlyLeuThrThrCysValAsnValThrGluIleSerAspSerValProSerProValProThrArgGluThrAspIleAlaGlnGlyValProArgAlaLeuValSerAlaLeuProGlyMetGluAlaProLeuSerHisLeuGluSerArgTyrLeuProAlaHisPheSerProLeuValPhePheLeuLeuLeuSerIleMetMetAlaCysCysLeuValAlaPhePheValLeuGlnArgGlnProArgCysTrpGluAlaSerValGluAspLeuLeuAsnAspGlnValThrLeuHisSerIleArgProArgGluGluAsnAspLeuGlyProAlaGlyThrValAspSerSerGlnGlyGlnGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692110"
    }
  ],
  "type": "nucleotide"
}