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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.1061A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Tyr354Cys",
        "hgvsWellDefined": "NP_001173.2:p.Tyr354Cys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1061A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1061A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Tyr354Cys"
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            "hgvs": "NP_001173.2:p.Tyr354Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253408",
      "coordinates": [
        {
          "allele": "G",
          "end": 1082,
          "referenceAllele": "A",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.977A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Tyr326Cys",
        "hgvsWellDefined": "NP_001188306.1:p.Tyr326Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "endIntronDirection": "+",
          "endIntronOffset": 3277,
          "referenceAllele": "A",
          "start": 1029,
          "startIntronDirection": "+",
          "startIntronOffset": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.1008+3277A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:n.1008+3277A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}