{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825747924",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1116,
          "referenceAllele": "V",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124448.1:p.Val1116Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706568",
          "hgvs": "NM_001130976.2:c.3346G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152617"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=287904[alleleid]",
        "alleleId": 287904,
        "preferredName": "NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/336965",
        "RCV": [
          "RCV000294142",
          "RCV000347373",
          "RCV000727170",
          "RCV001140788",
          "RCV001276443"
        ],
        "variationId": 336965
      }
    ]
  },
  "type": "amino-acid"
}