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      "proteinEffect": {
        "hgvs": "XP_005273370.1:p.Glu304Ter",
        "hgvsWellDefined": "XP_005273370.1:p.Glu304_Leu679delinsSerThrThrGlyLeuLeuLysAlaArgLysIleLeuSerGluAsnPheGlySerIleHisValTyrPheGlyAspProValSerLeuArgSerLeuAlaAlaGlyArgMetSerArgSerSerTyrAsnLeuValProArgTyrIleProGlnLysGlnSerGluAspMetHisAlaPheValThrGluValAlaTyrLysMetGluLeuLeuGlnIleGluAsnMetValLeuSerProTrpThrLeuIleValAlaValLeuLeuGlnAsnArgProSerMetAspPheAspAlaLeuValGluLysThrLeuTrpLeuLysGlyLeuThrGlnAlaPheGlyGlyPheLeuIleTrpProAspAsnLysProAlaGluGluValValProAlaSerIleLeuLeuHisSerAsnIleAlaSerLeuValLysAspGlnValIleLeuLysValAspSerGlyAspSerGluValValAspGlyLeuMetLeuGlnHisIleThrLeuLeuMetCysSerAlaTyrArgAsnGlnLeuLeuAsnIlePheValArgProSerLeuValAlaValAlaLeuGlnMetThrProGlyPheArgLysGluAspValTyrSerCysPheArgPheLeuArgAspValPheAlaAspGluPheIlePheLeuProGlyAsnThrLeuLysAspPheGluGluGlyCysTyrLeuLeuCysLysSerGluAlaIleGlnValThrThrLysAspIleLeuValThrGluLysGlyAsnThrValLeuGluPheLeuValGlyLeuPheLysProPheValGluSerTyrGlnIleIleCysLysTyrLeuLeuSerGluGluGluAspHisPheSerGluGluGlnTyrLeuAlaAlaValArgLysPheThrSerGlnLeuLeuAspGlnGlyThrSerGlnCysTyrAspValLeuSerSerAspValGlnLysAsnAlaLeuAlaAlaCysValArgLeuGlyValValGluLysLysLysIleAsnAsnAsnCysIlePheAsnValAsnGluProAlaThrThrLysLeuGluGluMetLeuGlyCysLysThrProIleGlyLysProAlaThrAlaLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "XM_011544303.3:c.586G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542605.1:p.Glu196Ter",
        "hgvsWellDefined": "XP_011542605.1:p.Glu196_Leu571delinsSerThrThrGlyLeuLeuLysAlaArgLysIleLeuSerGluAsnPheGlySerIleHisValTyrPheGlyAspProValSerLeuArgSerLeuAlaAlaGlyArgMetSerArgSerSerTyrAsnLeuValProArgTyrIleProGlnLysGlnSerGluAspMetHisAlaPheValThrGluValAlaTyrLysMetGluLeuLeuGlnIleGluAsnMetValLeuSerProTrpThrLeuIleValAlaValLeuLeuGlnAsnArgProSerMetAspPheAspAlaLeuValGluLysThrLeuTrpLeuLysGlyLeuThrGlnAlaPheGlyGlyPheLeuIleTrpProAspAsnLysProAlaGluGluValValProAlaSerIleLeuLeuHisSerAsnIleAlaSerLeuValLysAspGlnValIleLeuLysValAspSerGlyAspSerGluValValAspGlyLeuMetLeuGlnHisIleThrLeuLeuMetCysSerAlaTyrArgAsnGlnLeuLeuAsnIlePheValArgProSerLeuValAlaValAlaLeuGlnMetThrProGlyPheArgLysGluAspValTyrSerCysPheArgPheLeuArgAspValPheAlaAspGluPheIlePheLeuProGlyAsnThrLeuLysAspPheGluGluGlyCysTyrLeuLeuCysLysSerGluAlaIleGlnValThrThrLysAspIleLeuValThrGluLysGlyAsnThrValLeuGluPheLeuValGlyLeuPheLysProPheValGluSerTyrGlnIleIleCysLysTyrLeuLeuSerGluGluGluAspHisPheSerGluGluGlnTyrLeuAlaAlaValArgLysPheThrSerGlnLeuLeuAspGlnGlyThrSerGlnCysTyrAspValLeuSerSerAspValGlnLysAsnAlaLeuAlaAlaCysValArgLeuGlyValValGluLysLysLysIleAsnAsnAsnCysIlePheAsnValAsnGluProAlaThrThrLysLeuGluGluMetLeuGlyCysLysThrProIleGlyLysProAlaThrAlaLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "XM_011544304.2:c.586G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542606.1:p.Glu196Ter",
        "hgvsWellDefined": "XP_011542606.1:p.Glu196_Leu571delinsSerThrThrGlyLeuLeuLysAlaArgLysIleLeuSerGluAsnPheGlySerIleHisValTyrPheGlyAspProValSerLeuArgSerLeuAlaAlaGlyArgMetSerArgSerSerTyrAsnLeuValProArgTyrIleProGlnLysGlnSerGluAspMetHisAlaPheValThrGluValAlaTyrLysMetGluLeuLeuGlnIleGluAsnMetValLeuSerProTrpThrLeuIleValAlaValLeuLeuGlnAsnArgProSerMetAspPheAspAlaLeuValGluLysThrLeuTrpLeuLysGlyLeuThrGlnAlaPheGlyGlyPheLeuIleTrpProAspAsnLysProAlaGluGluValValProAlaSerIleLeuLeuHisSerAsnIleAlaSerLeuValLysAspGlnValIleLeuLysValAspSerGlyAspSerGluValValAspGlyLeuMetLeuGlnHisIleThrLeuLeuMetCysSerAlaTyrArgAsnGlnLeuLeuAsnIlePheValArgProSerLeuValAlaValAlaLeuGlnMetThrProGlyPheArgLysGluAspValTyrSerCysPheArgPheLeuArgAspValPheAlaAspGluPheIlePheLeuProGlyAsnThrLeuLysAspPheGluGluGlyCysTyrLeuLeuCysLysSerGluAlaIleGlnValThrThrLysAspIleLeuValThrGluLysGlyAsnThrValLeuGluPheLeuValGlyLeuPheLysProPheValGluSerTyrGlnIleIleCysLysTyrLeuLeuSerGluGluGluAspHisPheSerGluGluGlnTyrLeuAlaAlaValArgLysPheThrSerGlnLeuLeuAspGlnGlyThrSerGlnCysTyrAspValLeuSerSerAspValGlnLysAsnAlaLeuAlaAlaCysValArgLeuGlyValValGluLysLysLysIleAsnAsnAsnCysIlePheAsnValAsnGluProAlaThrThrLysLeuGluGluMetLeuGlyCysLysThrProIleGlyLysProAlaThrAlaLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741941629",
      "coordinates": [
        {
          "allele": "T",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "NM_014236.4:c.913G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055051.1:p.Glu305Ter",
        "hgvsWellDefined": "NP_055051.1:p.Glu305_Leu680delinsSerThrThrGlyLeuLeuLysAlaArgLysIleLeuSerGluAsnPheGlySerIleHisValTyrPheGlyAspProValSerLeuArgSerLeuAlaAlaGlyArgMetSerArgSerSerTyrAsnLeuValProArgTyrIleProGlnLysGlnSerGluAspMetHisAlaPheValThrGluValAlaTyrLysMetGluLeuLeuGlnIleGluAsnMetValLeuSerProTrpThrLeuIleValAlaValLeuLeuGlnAsnArgProSerMetAspPheAspAlaLeuValGluLysThrLeuTrpLeuLysGlyLeuThrGlnAlaPheGlyGlyPheLeuIleTrpProAspAsnLysProAlaGluGluValValProAlaSerIleLeuLeuHisSerAsnIleAlaSerLeuValLysAspGlnValIleLeuLysValAspSerGlyAspSerGluValValAspGlyLeuMetLeuGlnHisIleThrLeuLeuMetCysSerAlaTyrArgAsnGlnLeuLeuAsnIlePheValArgProSerLeuValAlaValAlaLeuGlnMetThrProGlyPheArgLysGluAspValTyrSerCysPheArgPheLeuArgAspValPheAlaAspGluPheIlePheLeuProGlyAsnThrLeuLysAspPheGluGluGlyCysTyrLeuLeuCysLysSerGluAlaIleGlnValThrThrLysAspIleLeuValThrGluLysGlyAsnThrValLeuGluPheLeuValGlyLeuPheLysProPheValGluSerTyrGlnIleIleCysLysTyrLeuLeuSerGluGluGluAspHisPheSerGluGluGlnTyrLeuAlaAlaValArgLysPheThrSerGlnLeuLeuAspGlnGlyThrSerGlnCysTyrAspValLeuSerSerAspValGlnLysAsnAlaLeuAlaAlaCysValArgLeuGlyValValGluLysLysLysIleAsnAsnAsnCysIlePheAsnValAsnGluProAlaThrThrLysLeuGluGluMetLeuGlyCysLysThrProIleGlyLysProAlaThrAlaLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366647.9:c.913G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014236.4:c.913G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355607.4:p.Glu305Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055051.1:p.Glu305Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826956699",
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "NM_001316350.2:c.730G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303279.1:p.Glu244Ter",
        "hgvsWellDefined": "NP_001303279.1:p.Glu244_Leu619delinsSerThrThrGlyLeuLeuLysAlaArgLysIleLeuSerGluAsnPheGlySerIleHisValTyrPheGlyAspProValSerLeuArgSerLeuAlaAlaGlyArgMetSerArgSerSerTyrAsnLeuValProArgTyrIleProGlnLysGlnSerGluAspMetHisAlaPheValThrGluValAlaTyrLysMetGluLeuLeuGlnIleGluAsnMetValLeuSerProTrpThrLeuIleValAlaValLeuLeuGlnAsnArgProSerMetAspPheAspAlaLeuValGluLysThrLeuTrpLeuLysGlyLeuThrGlnAlaPheGlyGlyPheLeuIleTrpProAspAsnLysProAlaGluGluValValProAlaSerIleLeuLeuHisSerAsnIleAlaSerLeuValLysAspGlnValIleLeuLysValAspSerGlyAspSerGluValValAspGlyLeuMetLeuGlnHisIleThrLeuLeuMetCysSerAlaTyrArgAsnGlnLeuLeuAsnIlePheValArgProSerLeuValAlaValAlaLeuGlnMetThrProGlyPheArgLysGluAspValTyrSerCysPheArgPheLeuArgAspValPheAlaAspGluPheIlePheLeuProGlyAsnThrLeuLysAspPheGluGluGlyCysTyrLeuLeuCysLysSerGluAlaIleGlnValThrThrLysAspIleLeuValThrGluLysGlyAsnThrValLeuGluPheLeuValGlyLeuPheLysProPheValGluSerTyrGlnIleIleCysLysTyrLeuLeuSerGluGluGluAspHisPheSerGluGluGlnTyrLeuAlaAlaValArgLysPheThrSerGlnLeuLeuAspGlnGlyThrSerGlnCysTyrAspValLeuSerSerAspValGlnLysAsnAlaLeuAlaAlaCysValArgLeuGlyValValGluLysLysLysIleAsnAsnAsnCysIlePheAsnValAsnGluProAlaThrThrLysLeuGluGluMetLeuGlyCysLysThrProIleGlyLysProAlaThrAlaLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684175"
    }
  ],
  "type": "nucleotide"
}