{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA175027",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 399,
          "referenceAllele": "R",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003495",
      "geneNCBI_id": 2120,
      "geneSymbol": "ETV6",
      "hgvs": [
        "NP_001978.1:p.Arg399Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA175025",
          "hgvs": "NM_001987.5:c.1195C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167868"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171930[alleleid]",
        "alleleId": 171930,
        "preferredName": "NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162220",
        "RCV": [
          "RCV000149802",
          "RCV000157609",
          "RCV001824288"
        ],
        "variationId": 162220
      }
    ]
  },
  "type": "amino-acid"
}