{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104278",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 409,
          "referenceAllele": "R",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003239",
      "geneNCBI_id": 1959,
      "geneSymbol": "EGR2",
      "hgvs": [
        "NP_000390.2:p.Arg409Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341431",
          "hgvs": "NM_000399.5:c.1225C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146942"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31789[alleleid]",
        "alleleId": 31789,
        "preferredName": "NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16750",
        "RCV": [
          "RCV001049422",
          "RCV003482227",
          "RCV000018234"
        ],
        "variationId": 16750
      }
    ]
  },
  "type": "amino-acid"
}