{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829509377",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 114,
          "referenceAllele": "Q",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004012.2:p.Gln114His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10378219",
          "hgvs": "NM_004021.3:c.342G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412656883",
          "hgvs": "NM_004021.3:c.342G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709518"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266769[alleleid]",
        "alleleId": 266769,
        "preferredName": "NM_004006.3(DMD):c.7722G>C (p.Gln2574His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282532",
        "RCV": [
          "RCV000355167",
          "RCV000803400",
          "RCV001833322",
          "RCV002401978"
        ],
        "variationId": 282532
      }
    ]
  },
  "type": "amino-acid"
}