{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645433981",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "R",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NP_000778.3:p.Arg549Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5313632",
          "hgvs": "NM_000787.4:c.1645C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147292"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=317614[alleleid]",
        "alleleId": 317614,
        "preferredName": "NM_000787.4(DBH):c.1645C>T (p.Arg549Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/365671",
        "RCV": [
          "RCV000318690",
          "RCV001653753"
        ],
        "variationId": 365671
      }
    ]
  },
  "type": "amino-acid"
}