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        "hgvs": "XP_016856339.1:p.Ala249Thr",
        "hgvsWellDefined": "XP_016856339.1:p.Ala249Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658807812",
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.4:c.745G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071372.1:p.Ala249Thr",
        "hgvsWellDefined": "NP_071372.1:p.Ala249Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326735.13:c.745G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022089.4:c.745G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327214.8:p.Ala249Thr"
          },
          "RefSeq": {
            "hgvs": "NP_071372.1:p.Ala249Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825835160",
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141973.3:c.730G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135445.1:p.Ala244Thr",
        "hgvsWellDefined": "NP_001135445.1:p.Ala244Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825836362",
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.3:c.730G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135446.1:p.Ala244Thr",
        "hgvsWellDefined": "NP_001135446.1:p.Ala244Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677480"
    }
  ],
  "type": "nucleotide"
}