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      "referenceSequence": "http://reg.genome.network/refseq/RS570182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573089312",
      "coordinates": [
        {
          "allele": "C",
          "end": 1347,
          "referenceAllele": "T",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.4:c.758T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.2:p.Leu253Pro",
        "hgvsWellDefined": "NP_008877.2:p.Leu253Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533211.6:c.758T>C"
          },
          "RefSeq": {
            "hgvs": "NM_006946.4:c.758T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432568.1:p.Leu253Pro"
          },
          "RefSeq": {
            "hgvs": "NP_008877.2:p.Leu253Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}