{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645486737",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1043,
          "referenceAllele": "V",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NP_054799.4:p.Val1043Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7538002",
          "hgvs": "NM_014080.5:c.3127G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173461"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=322608[alleleid]",
        "alleleId": 322608,
        "preferredName": "NM_001363711.2(DUOX2):c.3127G>A (p.Val1043Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/316155",
        "RCV": [
          "RCV000313471",
          "RCV001435423",
          "RCV004021633"
        ],
        "variationId": 316155
      }
    ]
  },
  "type": "amino-acid"
}