{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA347657",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NP_000778.3:p.Cys269Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347656",
          "hgvs": "NM_000787.4:c.806G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147292"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214412[alleleid]",
        "alleleId": 214412,
        "preferredName": "NM_000787.4(DBH):c.806G>T (p.Cys269Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217763",
        "RCV": [
          "RCV000201835"
        ],
        "variationId": 217763
      }
    ]
  },
  "type": "amino-acid"
}