{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253198",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "A",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NP_005996.2:p.Ala716Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253197",
          "hgvs": "NM_006005.3:c.2146G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19559[alleleid]",
        "alleleId": 19559,
        "preferredName": "NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4520",
        "RCV": [
          "RCV000004778",
          "RCV000522349",
          "RCV000599627"
        ],
        "variationId": 4520
      }
    ]
  },
  "type": "amino-acid"
}