{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825171499",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 144,
          "referenceAllele": "R",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NP_000434.1:p.Arg144Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA085477",
          "hgvs": "NM_000443.4:c.431G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146986"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214537[alleleid]",
        "alleleId": 214537,
        "preferredName": "NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242454",
        "RCV": [
          "RCV000734366",
          "RCV000987918"
        ],
        "variationId": 242454
      }
    ]
  },
  "type": "amino-acid"
}