{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825746941",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 226,
          "referenceAllele": "V",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124448.1:p.Val226Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1705456",
          "hgvs": "NM_001130976.2:c.676G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152617"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=250771[alleleid]",
        "alleleId": 250771,
        "preferredName": "NM_001130987.2(DYSF):c.772G>A (p.Val258Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/259085",
        "RCV": [
          "RCV000249294",
          "RCV000532146",
          "RCV000733997",
          "RCV001833275"
        ],
        "variationId": 259085
      }
    ]
  },
  "type": "amino-acid"
}