{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091217",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 76,
          "referenceAllele": "R",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NP_000013.2:p.Arg76Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115279",
          "hgvs": "NM_000022.3:c.226C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146575"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17001[alleleid]",
        "alleleId": 17001,
        "preferredName": "NM_000022.4(ADA):c.226C>T (p.Arg76Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1962",
        "RCV": [
          "RCV000002039",
          "RCV000059096",
          "RCV000482569"
        ],
        "variationId": 1962
      }
    ]
  },
  "type": "amino-acid"
}