{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580453430",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 406,
          "referenceAllele": "R",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NP_071881.1:p.Arg406Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1636363",
          "hgvs": "NM_022436.3:c.1217G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177833"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2414456[alleleid]",
        "alleleId": 2414456,
        "preferredName": "NM_022436.3(ABCG5):c.1217G>A (p.Arg406Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2438774",
        "RCV": [
          "RCV003139526",
          "RCV003396917"
        ],
        "variationId": 2438774
      }
    ]
  },
  "type": "amino-acid"
}