{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826939216",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 142,
          "referenceAllele": "R",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004392",
      "geneNCBI_id": 2778,
      "geneSymbol": "GNAS",
      "hgvs": [
        "NP_001296769.1:p.Arg142Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126067",
          "hgvs": "NM_001309840.2:c.424C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166841"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30972[alleleid]",
        "alleleId": 30972,
        "preferredName": "NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15933",
        "RCV": [
          "RCV000017287",
          "RCV000017289",
          "RCV000133503",
          "RCV000422043",
          "RCV000427542",
          "RCV000431495",
          "RCV000432295",
          "RCV000421422",
          "RCV000444862",
          "RCV000429524",
          "RCV000437784",
          "RCV000443647",
          "RCV000420084",
          "RCV000439728",
          "RCV000508635",
          "RCV002513071"
        ],
        "variationId": 15933
      }
    ]
  },
  "type": "amino-acid"
}