{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139684584",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 764,
          "referenceAllele": "P",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "NP_000206.2:p.Pro764Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9301631",
          "hgvs": "NM_000215.4:c.2291C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146764"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=847421[alleleid]",
        "alleleId": 847421,
        "preferredName": "NM_000215.4(JAK3):c.2291C>T (p.Pro764Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/863482",
        "RCV": [
          "RCV001070458"
        ],
        "variationId": 863482
      }
    ]
  },
  "type": "amino-acid"
}