{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580331264",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1195,
          "referenceAllele": "R",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NP_005493.2:p.Arg1195Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5168385",
          "hgvs": "NM_005502.4:c.3584G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171128"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2131290[alleleid]",
        "alleleId": 2131290,
        "preferredName": "NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2077232",
        "RCV": [
          "RCV002976388",
          "RCV003317635",
          "RCV003336787"
        ],
        "variationId": 2077232
      }
    ]
  },
  "type": "amino-acid"
}