{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139682778",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 826,
          "referenceAllele": "V",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124454.1:p.Val826Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706178",
          "hgvs": "NM_001130982.2:c.2476G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=885424[alleleid]",
        "alleleId": 885424,
        "preferredName": "NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/897424",
        "RCV": [
          "RCV001140670",
          "RCV001828567",
          "RCV001541058",
          "RCV004032709"
        ],
        "variationId": 897424
      }
    ]
  },
  "type": "amino-acid"
}