{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA120046",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 188,
          "referenceAllele": "R",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011359",
      "geneNCBI_id": 6770,
      "geneSymbol": "STAR",
      "hgvs": [
        "NP_000340.2:p.Arg188Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120045",
          "hgvs": "NM_000349.3:c.562C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146894"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24036[alleleid]",
        "alleleId": 24036,
        "preferredName": "NM_000349.3(STAR):c.562C>T (p.Arg188Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8997",
        "RCV": [
          "RCV000009560",
          "RCV000812202"
        ],
        "variationId": 8997
      }
    ]
  },
  "type": "amino-acid"
}