{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829508056",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004010.1:p.Cys269Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412653161",
          "hgvs": "NM_004019.3:c.806G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169758"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=849934[alleleid]",
        "alleleId": 849934,
        "preferredName": "NM_004006.3(DMD):c.10010G>T (p.Cys3337Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/851285",
        "RCV": [
          "RCV001055649",
          "RCV001811633",
          "RCV001832504"
        ],
        "variationId": 851285
      }
    ]
  },
  "type": "amino-acid"
}