{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA256972",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "ET",
          "end": 75,
          "referenceAllele": "",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NP_003979.2:p.Glu74_Thr75dup"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256968",
          "hgvs": "NM_003988.5:c.221_226dup"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169733"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28839[alleleid]",
        "alleleId": 28839,
        "preferredName": "NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13800",
        "RCV": [
          "RCV000014811",
          "RCV001377629"
        ],
        "variationId": 13800
      }
    ]
  },
  "type": "amino-acid"
}