{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139712657",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 703,
          "referenceAllele": "S",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006190",
      "geneNCBI_id": 3716,
      "geneSymbol": "JAK1",
      "hgvs": [
        "NP_002218.2:p.Ser703Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340667333",
          "hgvs": "NM_002227.4:c.2108G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168097"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=965590[alleleid]",
        "alleleId": 965590,
        "preferredName": "NM_002227.4(JAK1):c.2108G>T (p.Ser703Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/977461",
        "RCV": [
          "RCV001255135"
        ],
        "variationId": 977461
      }
    ]
  },
  "type": "amino-acid"
}