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          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_001018036.3:c.394G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018046.1:p.Gly132Arg",
        "hgvsWellDefined": "NP_001018046.1:p.Gly132Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915979845",
      "coordinates": [
        {
          "allele": "C",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_001142626.3:c.394G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136098.1:p.Gly132Arg",
        "hgvsWellDefined": "NP_001136098.1:p.Gly132Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645463084",
      "coordinates": [
        {
          "allele": "C",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012373",
      "geneNCBI_id": 7253,
      "geneSymbol": "TSHR",
      "hgvs": [
        "NM_000369.5:c.394G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000360.2:p.Gly132Arg",
        "hgvsWellDefined": "NP_000360.2:p.Gly132Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710830",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298171.7:c.394G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000369.5:c.394G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298171.2:p.Gly132Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000360.2:p.Gly132Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}