{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139749868",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 47,
          "referenceAllele": "V",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013886",
      "geneNCBI_id": 64240,
      "geneSymbol": "ABCG5",
      "hgvs": [
        "NP_071881.1:p.Val47Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1636791",
          "hgvs": "NM_022436.3:c.139G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177833"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=884933[alleleid]",
        "alleleId": 884933,
        "preferredName": "NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/895028",
        "RCV": [
          "RCV001136896",
          "RCV001512079",
          "RCV002468177",
          "RCV002261289",
          "RCV003293896",
          "RCV003331050",
          "RCV003938487"
        ],
        "variationId": 895028
      }
    ]
  },
  "type": "amino-acid"
}