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          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_001362877.2:c.309C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349806.1:p.Asn103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829410908",
      "coordinates": [
        {
          "allele": "T",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011103",
      "geneNCBI_id": 6598,
      "geneSymbol": "SMARCB1",
      "hgvs": [
        "NM_003073.5:c.309C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003064.2:p.Asn103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644036.2:c.309C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003073.5:c.309C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494049.2:p.Asn103="
          },
          "RefSeq": {
            "hgvs": "NP_003064.2:p.Asn103="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}