{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499296044",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2386,
          "referenceAllele": "T",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009646",
      "geneNCBI_id": 5783,
      "geneSymbol": "PTPN13",
      "hgvs": [
        "NP_542416.1:p.Thr2386Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2997134",
          "hgvs": "NM_080685.3:c.7157C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180765"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1037525[alleleid]",
        "alleleId": 1037525,
        "preferredName": "NM_080683.3(PTPN13):c.7142C>T (p.Thr2381Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1049975",
        "RCV": [
          "RCV001356736"
        ],
        "variationId": 1049975
      }
    ]
  },
  "type": "amino-acid"
}