{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2742003172",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 512,
          "referenceAllele": "R",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004392",
      "geneNCBI_id": 2778,
      "geneSymbol": "GNAS",
      "hgvs": [
        "NP_536350.2:p.Arg512Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9926708",
          "hgvs": "NM_080425.4:c.1534C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180672"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3211425[alleleid]",
        "alleleId": 3211425,
        "preferredName": "NM_080425.4(GNAS):c.1534C>T (p.Arg512Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3045531",
        "RCV": [
          "RCV004542335"
        ],
        "variationId": 3045531
      }
    ]
  },
  "type": "amino-acid"
}