{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825749850",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 849,
          "referenceAllele": "D",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124449.1:p.Asp849Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706239",
          "hgvs": "NM_001130977.2:c.2547T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347213675",
          "hgvs": "NM_001130977.2:c.2547T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152618"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=943097[alleleid]",
        "alleleId": 943097,
        "preferredName": "NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/957974",
        "RCV": [
          "RCV001231055",
          "RCV001834003"
        ],
        "variationId": 957974
      }
    ]
  },
  "type": "amino-acid"
}