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        "hgvsWellDefined": "NP_511040.2:p.[Pro414_Gly415del;Pro417_Gly421del;Arg423_Gly427delinsPheLeu;Pro429_Gly442del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699499"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1486,
          "referenceAllele": "G",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NR_165185.1:n.1486del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706031"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2125,
          "referenceAllele": "G",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002217",
      "geneNCBI_id": 1297,
      "geneSymbol": "COL9A1",
      "hgvs": [
        "NM_001851.6:c.1965del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001842.3:p.Pro657LeufsTer6",
        "hgvsWellDefined": "NP_001842.3:p.[Pro657_Gly658del;Pro660_Gly664del;Arg666_Gly670delinsPheLeu;Pro672_Gly685del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727215",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357250.11:c.1965del"
          },
          "RefSeq": {
            "hgvs": "NM_001851.6:c.1965del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349790.6:p.Pro657LeufsTer6"
          },
          "RefSeq": {
            "hgvs": "NP_001842.3:p.Pro657LeufsTer6"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}