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      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_078485.4:c.1087C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_511040.2:p.Pro363Ser",
        "hgvsWellDefined": "NP_511040.2:p.Pro363Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1337,
          "referenceAllele": "C",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NR_165185.1:n.1337C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645468138",
      "coordinates": [
        {
          "allele": "T",
          "end": 1976,
          "referenceAllele": "C",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_001851.6:c.1816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001842.3:p.Pro606Ser",
        "hgvsWellDefined": "NP_001842.3:p.Pro606Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727215",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357250.11:c.1816C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001851.6:c.1816C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349790.6:p.Pro606Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001842.3:p.Pro606Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}