{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829511037",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 532,
          "referenceAllele": "V",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004013.2:p.Val532Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA308370",
          "hgvs": "NM_004022.3:c.1594G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734707"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198564[alleleid]",
        "alleleId": 198564,
        "preferredName": "NM_004006.3(DMD):c.8974G>A (p.Val2992Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201741",
        "RCV": [
          "RCV000183401",
          "RCV000620404",
          "RCV000630589",
          "RCV001165645",
          "RCV001827984"
        ],
        "variationId": 201741
      }
    ]
  },
  "type": "amino-acid"
}