{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097953",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1249,
          "referenceAllele": "C",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NP_619639.3:p.Cys1249Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3852850",
          "hgvs": "NM_138694.3:c.3747T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181340"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=544254[alleleid]",
        "alleleId": 544254,
        "preferredName": "NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/552624",
        "RCV": [
          "RCV000667920",
          "RCV003236830",
          "RCV003459590",
          "RCV003918107"
        ],
        "variationId": 552624
      }
    ]
  },
  "type": "amino-acid"
}