{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499231896",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 399,
          "referenceAllele": "A",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000360",
      "geneNCBI_id": 326,
      "geneSymbol": "AIRE",
      "hgvs": [
        "NP_000374.1:p.Ala399Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10051986",
          "hgvs": "NM_000383.4:c.1196C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2391568607",
          "hgvs": "NM_000383.4:c.1196_1197delinsAC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=999241[alleleid]",
        "alleleId": 999241,
        "preferredName": "NM_000383.4(AIRE):c.1196_1197delinsAC (p.Ala399Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1932788[alleleid]",
        "alleleId": 1932788,
        "preferredName": "NM_000383.4(AIRE):c.1196C>A (p.Ala399Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1005579",
        "RCV": [
          "RCV001302478"
        ],
        "variationId": 1005579
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2194945",
        "RCV": [
          "RCV003162025",
          "RCV002637399"
        ],
        "variationId": 2194945
      }
    ]
  },
  "type": "amino-acid"
}