{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104094",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 320,
          "referenceAllele": "S",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NP_061337.1:p.Ser320Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123359",
          "hgvs": "NM_018849.3:c.959C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176433"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28729[alleleid]",
        "alleleId": 28729,
        "preferredName": "NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13690",
        "RCV": [
          "RCV000014688",
          "RCV000033065",
          "RCV000190560",
          "RCV000498517",
          "RCV003226159",
          "RCV004532350"
        ],
        "variationId": 13690
      }
    ]
  },
  "type": "amino-acid"
}