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      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "XR_002957563.1:n.1396G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658663058",
      "coordinates": [
        {
          "allele": "T",
          "end": 1377,
          "referenceAllele": "G",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NM_018418.5:c.1215G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060888.2:p.Glu405Asp",
        "hgvsWellDefined": "NP_060888.2:p.Glu405Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669662",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393545.9:c.1215G>T"
          },
          "RefSeq": {
            "hgvs": "NM_018418.5:c.1215G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377176.4:p.Glu405Asp"
          },
          "RefSeq": {
            "hgvs": "NP_060888.2:p.Glu405Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825363751",
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020423",
      "geneNCBI_id": 55812,
      "geneSymbol": "SPATA7",
      "hgvs": [
        "NM_001040428.4:c.1119G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035518.1:p.Glu373Asp",
        "hgvsWellDefined": "NP_001035518.1:p.Glu373Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711647"
    }
  ],
  "type": "nucleotide"
}