{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580317385",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 500,
          "referenceAllele": "N",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NP_005996.2:p.Asn500Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA356175199",
          "hgvs": "NM_006005.3:c.1499A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580071772",
          "hgvs": "NM_006005.3:c.1499_1500delinsGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2026314[alleleid]",
        "alleleId": 2026314,
        "preferredName": "NM_006005.3(WFS1):c.1499_1500inv (p.Asn500Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3529724[alleleid]",
        "alleleId": 3529724,
        "preferredName": "NM_006005.3(WFS1):c.1499A>G (p.Asn500Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1973615",
        "RCV": [
          "RCV002765362"
        ],
        "variationId": 1973615
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3370533",
        "RCV": [
          "RCV004780773",
          "RCV004818799"
        ],
        "variationId": 3370533
      }
    ]
  },
  "type": "amino-acid"
}