{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825171515",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "referenceAllele": "T",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NP_000434.1:p.Thr175Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123360",
          "hgvs": "NM_000443.4:c.523A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146986"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28730[alleleid]",
        "alleleId": 28730,
        "preferredName": "NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13691",
        "RCV": [
          "RCV000014690",
          "RCV000224371",
          "RCV000244656",
          "RCV001165181",
          "RCV001158467"
        ],
        "variationId": 13691
      }
    ]
  },
  "type": "amino-acid"
}