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        "hgvsWellDefined": "NP_000146.2:p.Tyr89Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674730",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378842.8:c.265T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000155.4:c.265T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368119.4:p.Tyr89Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000146.2:p.Tyr89Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282,
          "endIntronDirection": "+",
          "endIntronOffset": 246,
          "referenceAllele": "T",
          "start": 282,
          "startIntronDirection": "+",
          "startIntronOffset": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004135",
      "geneNCBI_id": 2592,
      "geneSymbol": "GALT",
      "hgvs": [
        "NM_001258332.2:c.50+246T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245261.1:n.50+246T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714940"
    }
  ],
  "type": "nucleotide"
}