{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA222206",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 2047,
          "referenceAllele": "I",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Ile2047Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA222205",
          "hgvs": "NM_003494.4:c.6139A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100253[alleleid]",
        "alleleId": 100253,
        "preferredName": "NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94353",
        "RCV": [
          "RCV000308010",
          "RCV000407709",
          "RCV000543402",
          "RCV000725370",
          "RCV001276874",
          "RCV001449586"
        ],
        "variationId": 94353
      }
    ]
  },
  "type": "amino-acid"
}