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      "proteinEffect": {
        "hgvs": "NP_212134.3:p.Gln285Ter",
        "hgvsWellDefined": "NP_212134.3:p.Gln285_Ala469delinsGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645534.1:c.853C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033409.4:c.853C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494193.1:p.Gln285Ter"
          },
          "RefSeq": {
            "hgvs": "NP_212134.3:p.Gln285Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828374985",
      "coordinates": [
        {
          "allele": "T",
          "end": 1121,
          "referenceAllele": "C",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370085.1:c.853C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357014.1:p.Gln285Ter",
        "hgvsWellDefined": "NP_001357014.1:p.Gln285_Ala469delinsGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828375338",
      "coordinates": [
        {
          "allele": "T",
          "end": 1630,
          "referenceAllele": "C",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016187",
      "geneNCBI_id": 113278,
      "geneSymbol": "SLC52A3",
      "hgvs": [
        "NM_001370086.1:c.853C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357015.1:p.Gln285Ter",
        "hgvsWellDefined": "NP_001357015.1:p.Gln285_Ala469delinsGlyTyrLeuGluGluLysAlaAlaProCysCysProAlaHisLeuAlaPheIleTyrThrLeuValAlaPheValAsnAlaLeuThrAsnGlyMetLeuProSerValGlnThrTyrSerCysLeuSerTyrGlyProValAlaTyrHisLeuAlaAlaThrLeuSerIleValAlaAsnProLeuAlaSerLeuValSerMetPheLeuProAsnArgSerLeuLeuPheLeuGlyValLeuSerValLeuGlyThrCysPheGlyGlyTyrAsnMetAlaMetAlaValMetSerProCysProLeuLeuGlnGlyHisTrpGlyGlyGluValLeuIleValAlaSerTrpValLeuPheSerGlyCysLeuSerTyrValLysValMetLeuGlyValValLeuArgAspLeuSerArgSerAlaLeuLeuTrpCysGlyAlaAlaValGlnLeuGlySerLeuLeuGlyAlaLeuLeuMetPheProLeuValAsnValLeuArgLeuPheSerSerAlaAspPheCysAsnLeuHisCysProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692110"
    }
  ],
  "type": "nucleotide"
}