{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580317625",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 819,
          "referenceAllele": "Q",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NP_005996.2:p.Gln819Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA356178611",
          "hgvs": "NM_006005.3:c.2455C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2415954[alleleid]",
        "alleleId": 2415954,
        "preferredName": "NM_006005.3(WFS1):c.2455C>G (p.Gln819Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2442241",
        "RCV": [
          "RCV003148578"
        ],
        "variationId": 2442241
      }
    ]
  },
  "type": "amino-acid"
}