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          "end": 257,
          "referenceAllele": "T",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.104T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Leu35Pro",
        "hgvsWellDefined": "NP_078951.2:p.Leu35Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.104T>C"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.104T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Leu35Pro"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Leu35Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}