{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829467963",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1434,
          "referenceAllele": "S",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Ser1434Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1706972",
          "hgvs": "NM_003494.4:c.4301C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=267861[alleleid]",
        "alleleId": 267861,
        "preferredName": "NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283624",
        "RCV": [
          "RCV000278721",
          "RCV000792442",
          "RCV001274838",
          "RCV002518888",
          "RCV003909953"
        ],
        "variationId": 283624
      }
    ]
  },
  "type": "amino-acid"
}