{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825749862",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 858,
          "referenceAllele": "E",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124449.1:p.Glu858Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706245",
          "hgvs": "NM_001130977.2:c.2572G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152618"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=268817[alleleid]",
        "alleleId": 268817,
        "preferredName": "NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284580",
        "RCV": [
          "RCV000338669",
          "RCV000416052",
          "RCV000531939",
          "RCV000393077",
          "RCV001271795"
        ],
        "variationId": 284580
      }
    ]
  },
  "type": "amino-acid"
}