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          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000865.2:c.1122T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856354.1:p.Tyr374Ter",
        "hgvsWellDefined": "XP_016856354.1:p.Tyr374_Met414delinsSerGlySerAsnSerGlyAlaAlaIleGlyTrpGlySerAlaSerAsnAlaGlySerGlySerGlyPheAsnGlyGlyPheGlySerSerMetAspSerLysSerSerGlyTrpGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000866.2:c.1122T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856355.1:p.Tyr374Ter",
        "hgvsWellDefined": "XP_016856355.1:p.Tyr374_Met414delinsSerGlySerAsnSerGlyAlaAlaIleGlyTrpGlySerAlaSerAsnAlaGlySerGlySerGlyPheAsnGlyGlyPheGlySerSerMetAspSerLysSerSerGlyTrpGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557140"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000867.2:c.1122T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856356.1:p.Tyr374Ter",
        "hgvsWellDefined": "XP_016856356.1:p.Tyr374_Met414delinsSerGlySerAsnSerGlyAlaAlaIleGlyTrpGlySerAlaSerAsnAlaGlySerGlySerGlyPheAsnGlyGlyPheGlySerSerMetAspSerLysSerSerGlyTrpGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "XM_017000868.2:c.1122T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856357.1:p.Tyr374Ter",
        "hgvsWellDefined": "XP_016856357.1:p.Tyr374_Met414delinsSerGlySerAsnSerGlyAlaAlaIleGlyTrpGlySerAlaSerAsnAlaGlySerGlySerGlyPheAsnGlyGlyPheGlySerSerMetAspSerLysSerSerGlyTrpGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645475774",
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "referenceAllele": "T",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011571",
      "geneNCBI_id": 23435,
      "geneSymbol": "TARDBP",
      "hgvs": [
        "NM_007375.4:c.1122T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_031401.1:p.Tyr374Ter",
        "hgvsWellDefined": "NP_031401.1:p.Tyr374_Met414delinsSerGlySerAsnSerGlyAlaAlaIleGlyTrpGlySerAlaSerAsnAlaGlySerGlySerGlyPheAsnGlyGlyPheGlySerSerMetAspSerLysSerSerGlyTrpGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000240185.8:c.1122T>G"
          },
          "RefSeq": {
            "hgvs": "NM_007375.4:c.1122T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000240185.4:p.Tyr374Ter"
          },
          "RefSeq": {
            "hgvs": "NP_031401.1:p.Tyr374Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}