{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829508389",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 252,
          "referenceAllele": "A",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004011.3:p.Ala252Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10378139",
          "hgvs": "NM_004020.4:c.755C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734662"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=649963[alleleid]",
        "alleleId": 649963,
        "preferredName": "NM_004006.3(DMD):c.8135C>G (p.Ala2712Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/644496",
        "RCV": [
          "RCV000798429",
          "RCV001825569",
          "RCV002422724"
        ],
        "variationId": 644496
      }
    ]
  },
  "type": "amino-acid"
}