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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005257251.1:p.Gln839_Cys952delinsProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA220401",
      "coordinates": [
        {
          "allele": "T",
          "end": 2854,
          "referenceAllele": "C",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.2512C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gln838Ter",
        "hgvsWellDefined": "NP_000143.2:p.Gln839_Cys952delinsProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2512C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2512C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gln838Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gln838Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825463222",
      "coordinates": [
        {
          "allele": "T",
          "end": 2669,
          "referenceAllele": "C",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.2512C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gln838Ter",
        "hgvsWellDefined": "NP_001073271.1:p.Gln839_Cys952delinsProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964920",
      "coordinates": [
        {
          "allele": "T",
          "end": 2589,
          "referenceAllele": "C",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.2512C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gln838Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Gln839_Cys952delinsProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}