{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828992793",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 286,
          "referenceAllele": "K",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011362",
      "geneNCBI_id": 6772,
      "geneSymbol": "STAT1",
      "hgvs": [
        "NP_001371809.1:p.Lys286Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128930",
          "hgvs": "NM_001384880.1:c.857A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734659"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39041[alleleid]",
        "alleleId": 39041,
        "preferredName": "NM_007315.4(STAT1):c.857A>T (p.Lys286Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30086",
        "RCV": [
          "RCV000022989"
        ],
        "variationId": 30086
      }
    ]
  },
  "type": "amino-acid"
}