{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645433971",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 318,
          "referenceAllele": "A",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002689",
      "geneNCBI_id": 1621,
      "geneSymbol": "DBH",
      "hgvs": [
        "NP_000778.3:p.Ala318Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5313252",
          "hgvs": "NM_000787.4:c.952G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147292"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=317200[alleleid]",
        "alleleId": 317200,
        "preferredName": "NM_000787.4(DBH):c.952G>T (p.Ala318Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/365652",
        "RCV": [
          "RCV000387809",
          "RCV001643107",
          "RCV003972541"
        ],
        "variationId": 365652
      }
    ]
  },
  "type": "amino-acid"
}