{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829467664",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1305,
          "referenceAllele": "T",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Thr1305Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706829",
          "hgvs": "NM_003494.4:c.3914C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271412[alleleid]",
        "alleleId": 271412,
        "preferredName": "NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287175",
        "RCV": [
          "RCV000291125",
          "RCV000526675",
          "RCV001085337",
          "RCV003967764"
        ],
        "variationId": 287175
      }
    ]
  },
  "type": "amino-acid"
}