{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916026475",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 76,
          "referenceAllele": "R",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NP_001308979.1:p.Arg76Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115285",
          "hgvs": "NM_001322050.2:c.226C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648410"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17005[alleleid]",
        "alleleId": 17005,
        "preferredName": "NM_000022.4(ADA):c.631C>T (p.Arg211Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1966",
        "RCV": [
          "RCV000002043",
          "RCV000059111",
          "RCV002298431"
        ],
        "variationId": 1966
      }
    ]
  },
  "type": "amino-acid"
}