{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916000817",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 720,
          "referenceAllele": "T",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NP_009330.1:p.Thr720Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA349911737",
          "hgvs": "NM_007315.4:c.2159C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172757"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=815885[alleleid]",
        "alleleId": 815885,
        "preferredName": "NM_007315.4(STAT1):c.2159C>T (p.Thr720Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/827739",
        "RCV": [
          "RCV001027624"
        ],
        "variationId": 827739
      }
    ]
  },
  "type": "amino-acid"
}