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      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Gln472Ter",
        "hgvsWellDefined": "NP_075462.3:p.Gln472_Ala605delinsLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670544",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311014.11:c.1414C>T"
          },
          "RefSeq": {
            "hgvs": "NM_023036.6:c.1414C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308312.6:p.Gln472Ter"
          },
          "RefSeq": {
            "hgvs": "NP_075462.3:p.Gln472Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826082284",
      "coordinates": [
        {
          "allele": "T",
          "end": 1498,
          "referenceAllele": "C",
          "start": 1497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.3:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Gln460Ter",
        "hgvsWellDefined": "NP_001166281.1:p.Gln460_Ala593delinsLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827712294",
      "coordinates": [
        {
          "allele": "T",
          "end": 1537,
          "referenceAllele": "C",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001353167.2:c.1414C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340096.1:p.Gln472Ter",
        "hgvsWellDefined": "NP_001340096.1:p.Gln472_Ala649delinsLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NR_148379.2:n.1415C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704721"
    }
  ],
  "type": "nucleotide"
}