{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825171689",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 582,
          "referenceAllele": "R",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NP_000434.1:p.Arg582Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4327213",
          "hgvs": "NM_000443.4:c.1745G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146986"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790754[alleleid]",
        "alleleId": 790754,
        "preferredName": "NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/802327",
        "RCV": [
          "RCV000987910",
          "RCV003158272"
        ],
        "variationId": 802327
      }
    ]
  },
  "type": "amino-acid"
}