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      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.2180dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.1999dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Ala667GlyfsTer?",
        "hgvsWellDefined": "NP_001162.5:p.[Ala667del;Lys669_Ser671delinsArgGluVal;Leu673_Ser674delinsPro;Leu676_Lys682delinsValArgProProTrpGlyAla;Glu684Lys;Phe686_Ile689delinsGlyGlyValArg;Glu690_Gly691insHisArg;Ala692_Val696delinsCysCysGlyLeuArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.1999dup"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.1999dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Ala667GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Ala667GlyfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}