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        "hgvs": "NP_001275537.1:p.Arg141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019706",
      "geneNCBI_id": 54507,
      "geneSymbol": "ADAMTSL4",
      "hgvs": [
        "NM_001378596.1:c.421C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365525.1:p.Arg141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064400393",
      "coordinates": [
        {
          "allele": "C",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019706",
      "geneNCBI_id": 54507,
      "geneSymbol": "ADAMTSL4",
      "hgvs": [
        "NM_019032.6:c.421C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061905.2:p.Arg141="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728384",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271643.9:c.421C="
          },
          "RefSeq": {
            "hgvs": "NM_019032.6:c.421C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271643.4:p.Arg141="
          },
          "RefSeq": {
            "hgvs": "NP_061905.2:p.Arg141="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}