{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573305237",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 222,
          "referenceAllele": "I",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NP_733842.2:p.Ile222Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA138924757",
          "hgvs": "NM_170724.3:c.664A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183090"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1449794[alleleid]",
        "alleleId": 1449794,
        "preferredName": "NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1371356",
        "RCV": [
          "RCV001864514",
          "RCV003475134"
        ],
        "variationId": 1371356
      }
    ]
  },
  "type": "amino-acid"
}