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      "referenceSequence": "http://reg.genome.network/refseq/RS538364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 136,
          "endIntronDirection": "-",
          "endIntronOffset": 21457,
          "referenceAllele": "C",
          "start": 136,
          "startIntronDirection": "-",
          "startIntronOffset": 21458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001105.5:c.-182-21458C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001096.1:n.-182-21458C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 535,
          "endIntronDirection": "-",
          "endIntronOffset": 21457,
          "referenceAllele": "C",
          "start": 535,
          "startIntronDirection": "-",
          "startIntronOffset": 21458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NM_001111067.4:c.-182-21458C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001104537.1:n.-182-21458C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676674",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000434821.7:c.-182-21458C="
          },
          "RefSeq": {
            "hgvs": "NM_001111067.4:c.-182-21458C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000405004.1:n.-182-21458C="
          },
          "RefSeq": {
            "hgvs": "NP_001104537.1:n.-182-21458C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}