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      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.103C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.103C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Arg35Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Arg35Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827629995",
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351835.2:c.103C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338764.1:p.Arg35Ter",
        "hgvsWellDefined": "NP_001338764.1:p.Arg35_Lys112delinsAspProGluThrIleLysHisLeuAspArgHisSerAspSerLysGlnGlyLysTyrLeuAsnTrpAspAlaValPheArgPheLeuGlnLysTyrIleGlnLysGluThrGluCysLeuArgIleAlaLysProAsnValSerAlaSerThrGlnAlaSerArgGlnLysLysMetGlnGluIleSerSerLeuValLysTyrPheIleLysCysAlaAsnArgSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035178",
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351836.2:c.103C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338765.1:p.Arg35Ter",
        "hgvsWellDefined": "NP_001338765.1:p.Arg35_Lys112delinsAspProGluThrIleLysHisLeuAspArgHisSerAspSerLysGlnGlyLysTyrLeuAsnTrpAspAlaValPheArgPheLeuGlnLysTyrIleGlnLysGluThrGluCysLeuArgIleAlaLysProAsnValSerAlaSerThrGlnAlaSerArgGlnLysLysMetGlnGluIleSerSerLeuValLysTyrPheIleLysCysAlaAsnArgSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719927"
    }
  ],
  "type": "nucleotide"
}