{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825753780",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 294,
          "referenceAllele": "N",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124451.1:p.Asn294Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1705488",
          "hgvs": "NM_001130979.2:c.882T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347209029",
          "hgvs": "NM_001130979.2:c.882T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152620"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1091584[alleleid]",
        "alleleId": 1091584,
        "preferredName": "NM_001130987.2(DYSF):c.885T>G (p.Asn295Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1106972",
        "RCV": [
          "RCV001431894"
        ],
        "variationId": 1106972
      }
    ]
  },
  "type": "amino-acid"
}