{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825603924",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 193,
          "referenceAllele": "E",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008617",
      "geneNCBI_id": 5077,
      "geneSymbol": "PAX3",
      "hgvs": [
        "NP_001120838.1:p.Glu193Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2135687",
          "hgvs": "NM_001127366.3:c.577G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152067"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=496686[alleleid]",
        "alleleId": 496686,
        "preferredName": "NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/504786",
        "RCV": [
          "RCV000606544",
          "RCV000765614",
          "RCV001139117",
          "RCV001139116",
          "RCV001770539"
        ],
        "variationId": 504786
      }
    ]
  },
  "type": "amino-acid"
}