{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829494831",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "referenceAllele": "S",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004001.1:p.Ser206Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10379987",
          "hgvs": "NM_004010.3:c.616T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=694873[alleleid]",
        "alleleId": 694873,
        "preferredName": "NM_004006.3(DMD):c.985T>A (p.Ser329Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/705771",
        "RCV": [
          "RCV000876165",
          "RCV001510543",
          "RCV001830924"
        ],
        "variationId": 705771
      }
    ]
  },
  "type": "amino-acid"
}