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      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.1235C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Thr412Ile",
        "hgvsWellDefined": "NP_001173.2:p.Thr412Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1235C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1235C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Thr412Ile"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Thr412Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253466",
      "coordinates": [
        {
          "allele": "T",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.1151C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Thr384Ile",
        "hgvsWellDefined": "NP_001188306.1:p.Thr384Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826257565",
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.1043C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Thr348Ile",
        "hgvsWellDefined": "NP_001189333.2:p.Thr348Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}