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      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271098.2:c.11C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258027.1:p.Ala4Gly",
        "hgvsWellDefined": "NP_001258027.1:p.Ala4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826532683",
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "C",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_001271099.2:c.11C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258028.1:p.Ala4Gly",
        "hgvsWellDefined": "NP_001258028.1:p.Ala4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829756504",
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "C",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_014281.5:c.11C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055096.2:p.Ala4Gly",
        "hgvsWellDefined": "NP_055096.2:p.Ala4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580501481",
      "coordinates": [
        {
          "allele": "G",
          "end": 23,
          "referenceAllele": "C",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017042",
      "geneNCBI_id": 22827,
      "geneSymbol": "PUF60",
      "hgvs": [
        "NM_078480.3:c.11C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_510965.1:p.Ala4Gly",
        "hgvsWellDefined": "NP_510965.1:p.Ala4Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699498",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000526683.6:c.11C>G"
          },
          "RefSeq": {
            "hgvs": "NM_078480.3:c.11C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434359.1:p.Ala4Gly"
          },
          "RefSeq": {
            "hgvs": "NP_510965.1:p.Ala4Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}