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      "referenceSequence": "http://reg.genome.network/refseq/RS711767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "endIntronDirection": "+",
          "endIntronOffset": 13913,
          "referenceAllele": "C",
          "start": 1139,
          "startIntronDirection": "+",
          "startIntronOffset": 13912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004392",
      "geneNCBI_id": 2778,
      "geneSymbol": "GNAS",
      "hgvs": [
        "NM_016592.5:c.*42+13913C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057676.1:n.*42+13913C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728196",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371075.7:c.*42+13913C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016592.5:c.*42+13913C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360115.3:n.*42+13913C>T"
          },
          "RefSeq": {
            "hgvs": "NP_057676.1:n.*42+13913C>T"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742003172",
      "coordinates": [
        {
          "allele": "T",
          "end": 2084,
          "referenceAllele": "C",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004392",
      "geneNCBI_id": 2778,
      "geneSymbol": "GNAS",
      "hgvs": [
        "NM_080425.4:c.1534C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_536350.2:p.Arg512Trp",
        "hgvsWellDefined": "NP_536350.2:p.Arg512Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729035",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371100.9:c.1534C>T"
          },
          "RefSeq": {
            "hgvs": "NM_080425.4:c.1534C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360141.3:p.Arg512Trp"
          },
          "RefSeq": {
            "hgvs": "NP_536350.2:p.Arg512Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}