{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA251794",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 99,
          "referenceAllele": "R",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NP_001019553.1:p.Arg99Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251793",
          "hgvs": "NM_001024382.2:c.295C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149229"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16484[alleleid]",
        "alleleId": 16484,
        "preferredName": "NM_000190.4(HMBS):c.346C>T (p.Arg116Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1445",
        "RCV": [
          "RCV000001510",
          "RCV001212053"
        ],
        "variationId": 1445
      }
    ]
  },
  "type": "amino-acid"
}