{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916068346",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 739,
          "referenceAllele": "F",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NP_061338.1:p.Phe739Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4327083",
          "hgvs": "NM_018850.3:c.2217T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368063429",
          "hgvs": "NM_018850.3:c.2217T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368063434",
          "hgvs": "NM_018850.3:c.2215T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176434"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=584224[alleleid]",
        "alleleId": 584224,
        "preferredName": "NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/593160",
        "RCV": [
          "RCV000728122",
          "RCV000987907",
          "RCV001731911"
        ],
        "variationId": 593160
      }
    ]
  },
  "type": "amino-acid"
}