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      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_001330599.2:c.60C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317528.1:p.Ile20Met",
        "hgvsWellDefined": "NP_001317528.1:p.Ile20Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573257959",
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NM_014112.5:c.99C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054831.2:p.Ile33Met",
        "hgvsWellDefined": "NP_054831.2:p.Ile33Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697185",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395715.8:c.99C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014112.5:c.99C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379065.3:p.Ile33Met"
          },
          "RefSeq": {
            "hgvs": "NP_054831.2:p.Ile33Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}