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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.8016C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580284019",
      "coordinates": [
        {
          "allele": "T",
          "end": 7917,
          "referenceAllele": "C",
          "start": 7916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.6698C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Thr2233Ile",
        "hgvsWellDefined": "NP_003473.3:p.Thr2233Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.6698C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.6698C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Thr2233Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Thr2233Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}