{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829429063",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 34,
          "referenceAllele": "L",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011825",
      "geneNCBI_id": 7080,
      "geneSymbol": "NKX2-1",
      "hgvs": [
        "NP_003308.1:p.Leu34Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7158568",
          "hgvs": "NM_003317.4:c.100C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169111"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=684482[alleleid]",
        "alleleId": 684482,
        "preferredName": "NM_001079668.3(NKX2-1):c.190C>A (p.Leu64Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/695624",
        "RCV": [
          "RCV000861436",
          "RCV001109019",
          "RCV001109020"
        ],
        "variationId": 695624
      }
    ]
  },
  "type": "amino-acid"
}