{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA124395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 138,
          "referenceAllele": "V",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006024",
      "geneNCBI_id": 3575,
      "geneSymbol": "IL7R",
      "hgvs": [
        "NP_002176.2:p.Val138Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124393",
          "hgvs": "NM_002185.5:c.412G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168057"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29879[alleleid]",
        "alleleId": 29879,
        "preferredName": "NM_002185.5(IL7R):c.412G>A (p.Val138Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14840",
        "RCV": [
          "RCV000121214",
          "RCV001711072",
          "RCV000015965"
        ],
        "variationId": 14840
      }
    ]
  },
  "type": "amino-acid"
}