{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA179676",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 776,
          "referenceAllele": "E",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NP_005996.2:p.Glu776Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA179675",
          "hgvs": "NM_006005.3:c.2327A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=173979[alleleid]",
        "alleleId": 173979,
        "preferredName": "NM_006005.3(WFS1):c.2327A>T (p.Glu776Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166606",
        "RCV": [
          "RCV000152695",
          "RCV000351538",
          "RCV000664094",
          "RCV000658991",
          "RCV001544546",
          "RCV001157779",
          "RCV004532715"
        ],
        "variationId": 166606
      }
    ]
  },
  "type": "amino-acid"
}