{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825920043",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 456,
          "referenceAllele": "R",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NP_001139325.1:p.Arg456His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA136332",
          "hgvs": "NM_001145853.1:c.1367G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154258"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54601[alleleid]",
        "alleleId": 54601,
        "preferredName": "NM_006005.3(WFS1):c.1367G>A (p.Arg456His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45434",
        "RCV": [
          "RCV000038638",
          "RCV000269758",
          "RCV000363867",
          "RCV001523400",
          "RCV002464096"
        ],
        "variationId": 45434
      }
    ]
  },
  "type": "amino-acid"
}