{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891866486",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 129,
          "referenceAllele": "R",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008618",
      "geneNCBI_id": 5078,
      "geneSymbol": "PAX4",
      "hgvs": [
        "NP_001353039.1:p.Arg129Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123473",
          "hgvs": "NM_001366110.1:c.385C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660581"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28829[alleleid]",
        "alleleId": 28829,
        "preferredName": "NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13790",
        "RCV": [
          "RCV000014800",
          "RCV001851858",
          "RCV002227035",
          "RCV002247339"
        ],
        "variationId": 13790
      }
    ]
  },
  "type": "amino-acid"
}