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          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.2:c.19C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:p.Pro7Ala",
        "hgvsWellDefined": "NP_001291647.1:p.Pro7Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA300528",
      "coordinates": [
        {
          "allele": "G",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.8:c.610C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:p.Pro204Ala",
        "hgvsWellDefined": "NP_000305.3:p.Pro204Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.610C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.610C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:p.Pro204Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:p.Pro204Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}