{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA160254",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 151,
          "referenceAllele": "P",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006193",
      "geneNCBI_id": 3718,
      "geneSymbol": "JAK3",
      "hgvs": [
        "NP_000206.2:p.Pro151Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA160252",
          "hgvs": "NM_000215.4:c.452C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146764"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45085[alleleid]",
        "alleleId": 45085,
        "preferredName": "NM_000215.4(JAK3):c.452C>G (p.Pro151Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36422",
        "RCV": [
          "RCV000121271",
          "RCV000224911",
          "RCV001084083"
        ],
        "variationId": 36422
      }
    ]
  },
  "type": "amino-acid"
}