{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139672453",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 67,
          "referenceAllele": "R",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000626",
      "geneNCBI_id": 353,
      "geneSymbol": "APRT",
      "hgvs": [
        "NP_001025189.1:p.Arg67Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8234511",
          "hgvs": "NM_001030018.2:c.200G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149434"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975987[alleleid]",
        "alleleId": 975987,
        "preferredName": "NM_000485.3(APRT):c.200G>A (p.Arg67Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988046",
        "RCV": [
          "RCV001269438"
        ],
        "variationId": 988046
      }
    ]
  },
  "type": "amino-acid"
}