{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101278",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 118,
          "referenceAllele": "S",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002577",
      "geneNCBI_id": 1535,
      "geneSymbol": "CYBA",
      "hgvs": [
        "NP_000092.2:p.Ser118Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115450",
          "hgvs": "NM_000101.4:c.354C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397062840",
          "hgvs": "NM_000101.4:c.354C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397062862",
          "hgvs": "NM_000101.4:c.352A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146653"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17298[alleleid]",
        "alleleId": 17298,
        "preferredName": "NM_000101.4(CYBA):c.354C>A (p.Ser118Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2259",
        "RCV": [
          "RCV000002347",
          "RCV000059045",
          "RCV001731273"
        ],
        "variationId": 2259
      }
    ]
  },
  "type": "amino-acid"
}