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        "hgvs": "NP_000422.1:p.Tyr116His",
        "hgvsWellDefined": "NP_000422.1:p.Tyr116His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.346T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.346T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Tyr116His"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Tyr116His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825570788",
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "T",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.3:c.346T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Tyr116His",
        "hgvsWellDefined": "NP_001107657.1:p.Tyr116His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916019157",
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "T",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.346T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.Tyr116His",
        "hgvsWellDefined": "NP_001288111.1:p.Tyr116His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}