{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108469",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 68,
          "referenceAllele": "E",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006010",
      "geneNCBI_id": 3561,
      "geneSymbol": "IL2RG",
      "hgvs": [
        "NP_000197.1:p.Glu68Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16608976",
          "hgvs": "NM_000206.3:c.202G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146755"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=379505[alleleid]",
        "alleleId": 379505,
        "preferredName": "NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/379561",
        "RCV": [
          "RCV000427716",
          "RCV000638843",
          "RCV001253325"
        ],
        "variationId": 379561
      }
    ]
  },
  "type": "amino-acid"
}