{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829489680",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 573,
          "referenceAllele": "E",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004000.1:p.Glu573Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA285532",
          "hgvs": "NM_004009.3:c.1719A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412673244",
          "hgvs": "NM_004009.3:c.1719A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100378[alleleid]",
        "alleleId": 100378,
        "preferredName": "NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94478",
        "RCV": [
          "RCV000235164",
          "RCV000619753",
          "RCV000723549",
          "RCV001079116",
          "RCV001831832",
          "RCV004542773"
        ],
        "variationId": 94478
      }
    ]
  },
  "type": "amino-acid"
}