{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829468652",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1749,
          "referenceAllele": "R",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Arg1749His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1707346",
          "hgvs": "NM_003494.4:c.5246G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=518689[alleleid]",
        "alleleId": 518689,
        "preferredName": "NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/538624",
        "RCV": [
          "RCV000647987",
          "RCV001276860",
          "RCV003144428"
        ],
        "variationId": 538624
      }
    ]
  },
  "type": "amino-acid"
}