{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573084087",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 680,
          "referenceAllele": "T",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_003997.2:p.Thr680Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA240885",
          "hgvs": "NM_004006.3:c.2039C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709519"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191903[alleleid]",
        "alleleId": 191903,
        "preferredName": "NM_004006.3(DMD):c.2039C>A (p.Thr680Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194740",
        "RCV": [
          "RCV000175177",
          "RCV001852142",
          "RCV002485135"
        ],
        "variationId": 194740
      }
    ]
  },
  "type": "amino-acid"
}