{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580284473",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 50,
          "referenceAllele": "T",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000798",
      "geneNCBI_id": 475,
      "geneSymbol": "ATOX1",
      "hgvs": [
        "NP_004036.1:p.Thr50Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3522890",
          "hgvs": "NM_004045.4:c.149C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169779"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2320785[alleleid]",
        "alleleId": 2320785,
        "preferredName": "NM_004045.4(ATOX1):c.149C>A (p.Thr50Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2331898",
        "RCV": [
          "RCV004172622"
        ],
        "variationId": 2331898
      }
    ]
  },
  "type": "amino-acid"
}