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      "referenceSequence": "http://reg.genome.network/refseq/RS574395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913198994",
      "coordinates": [
        {
          "allele": "C",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NM_024675.4:c.160G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078951.2:p.Glu54Gln",
        "hgvsWellDefined": "NP_078951.2:p.Glu54Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261584.9:c.160G>C"
          },
          "RefSeq": {
            "hgvs": "NM_024675.4:c.160G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261584.4:p.Glu54Gln"
          },
          "RefSeq": {
            "hgvs": "NP_078951.2:p.Glu54Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}