{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825758444",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 409,
          "referenceAllele": "G",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124453.1:p.Gly409Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1705655",
          "hgvs": "NM_001130981.2:c.1226G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152622"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269171[alleleid]",
        "alleleId": 269171,
        "preferredName": "NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284934",
        "RCV": [
          "RCV001828209",
          "RCV002521928",
          "RCV001241483",
          "RCV000264809"
        ],
        "variationId": 284934
      }
    ]
  },
  "type": "amino-acid"
}