{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913196572",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "R",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NP_003733.2:p.Arg948Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA349124165",
          "hgvs": "NM_003742.4:c.2842C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169506"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=589153[alleleid]",
        "alleleId": 589153,
        "preferredName": "NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/598092",
        "RCV": [
          "RCV000734399",
          "RCV002477730",
          "RCV003155301",
          "RCV003472270"
        ],
        "variationId": 598092
      }
    ]
  },
  "type": "amino-acid"
}