{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139713344",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1749,
          "referenceAllele": "I",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NP_005493.2:p.Ile1749Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5167897",
          "hgvs": "NM_005502.4:c.5245A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171128"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=900729[alleleid]",
        "alleleId": 900729,
        "preferredName": "NM_005502.4(ABCA1):c.5245A>G (p.Ile1749Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/912803",
        "RCV": [
          "RCV001166171",
          "RCV001169092"
        ],
        "variationId": 912803
      }
    ]
  },
  "type": "amino-acid"
}