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        "hgvs": "XP_016856495.1:n.541-117G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "endIntronDirection": "-",
          "endIntronOffset": 116,
          "referenceAllele": "G",
          "start": 629,
          "startIntronDirection": "-",
          "startIntronOffset": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009652",
      "geneNCBI_id": 26191,
      "geneSymbol": "PTPN22",
      "hgvs": [
        "NM_015967.7:c.541-117G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057051.3:n.541-117G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "endIntronDirection": "-",
          "endIntronOffset": 116,
          "referenceAllele": "G",
          "start": 629,
          "startIntronDirection": "-",
          "startIntronOffset": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009652",
      "geneNCBI_id": 26191,
      "geneSymbol": "PTPN22",
      "hgvs": [
        "NM_015967.8:c.541-117G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057051.4:n.541-117G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS784225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000359785.10:c.541-117G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015967.8:c.541-117G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000352833.5:n.541-117G>A"
          },
          "RefSeq": {
            "hgvs": "NP_057051.4:n.541-117G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}