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        "NM_001378514.1:c.1703T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365443.1:p.Leu568Pro",
        "hgvsWellDefined": "NP_001365443.1:p.Leu568Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828796137",
      "coordinates": [
        {
          "allele": "C",
          "end": 2185,
          "referenceAllele": "T",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001378687.1:c.1751T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365616.1:p.Leu584Pro",
        "hgvsWellDefined": "NP_001365616.1:p.Leu584Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721818",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000510168.6:c.1751T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001378687.1:c.1751T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000427461.1:p.Leu584Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001365616.1:p.Leu584Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829738843",
      "coordinates": [
        {
          "allele": "C",
          "end": 1971,
          "referenceAllele": "T",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_014382.5:c.1751T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055197.2:p.Leu584Pro",
        "hgvsWellDefined": "NP_055197.2:p.Leu584Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727959"
    }
  ],
  "type": "nucleotide"
}