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      "hgvs": [
        "XR_001739007.2:n.1112G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580294403",
      "coordinates": [
        {
          "allele": "A",
          "end": 1221,
          "referenceAllele": "G",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "NM_003659.4:c.1204G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003650.1:p.Val402Ile",
        "hgvsWellDefined": "NP_003650.1:p.Val402Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666124",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264167.11:c.1204G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003659.4:c.1204G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264167.4:p.Val402Ile"
          },
          "RefSeq": {
            "hgvs": "NP_003650.1:p.Val402Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}