{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825919841",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 333,
          "referenceAllele": "V",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012762",
      "geneNCBI_id": 7466,
      "geneSymbol": "WFS1",
      "hgvs": [
        "NP_001139325.1:p.Val333Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA136363",
          "hgvs": "NM_001145853.1:c.997G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2499217321",
          "hgvs": "NM_001145853.1:c.996_997delinsAA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154258"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54630[alleleid]",
        "alleleId": 54630,
        "preferredName": "NM_006005.3(WFS1):c.997G>A (p.Val333Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1071911[alleleid]",
        "alleleId": 1071911,
        "preferredName": "NM_006005.3(WFS1):c.996_997delinsAA (p.Val333Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45463",
        "RCV": [
          "RCV000038668",
          "RCV000259675",
          "RCV001157248",
          "RCV001523396",
          "RCV002464100",
          "RCV002496615"
        ],
        "variationId": 45463
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1094353",
        "RCV": [
          "RCV001414831"
        ],
        "variationId": 1094353
      }
    ]
  },
  "type": "amino-acid"
}