{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916058458",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 36,
          "referenceAllele": "T",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NP_733842.2:p.Thr36Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129366",
          "hgvs": "NM_170724.3:c.107C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183090"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19147[alleleid]",
        "alleleId": 19147,
        "preferredName": "NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4108",
        "RCV": [
          "RCV000004324",
          "RCV000023566",
          "RCV000082517",
          "RCV000414898",
          "RCV000626993",
          "RCV000845138",
          "RCV001535891",
          "RCV002287322",
          "RCV003415647",
          "RCV004018552"
        ],
        "variationId": 4108
      }
    ]
  },
  "type": "amino-acid"
}