{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916059007",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 757,
          "referenceAllele": "I",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NP_733842.2:p.Ile757Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3853291",
          "hgvs": "NM_170724.3:c.2269A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183090"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275214[alleleid]",
        "alleleId": 275214,
        "preferredName": "NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290977",
        "RCV": [
          "RCV000288236",
          "RCV000317551",
          "RCV001844826",
          "RCV002509355",
          "RCV003469249"
        ],
        "variationId": 290977
      }
    ]
  },
  "type": "amino-acid"
}