{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573229766",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 247,
          "referenceAllele": "I",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012874",
      "geneNCBI_id": 7547,
      "geneSymbol": "ZIC3",
      "hgvs": [
        "NP_003404.1:p.Ile247Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10529323",
          "hgvs": "NM_003413.4:c.739A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169200"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1609505[alleleid]",
        "alleleId": 1609505,
        "preferredName": "NM_003413.4(ZIC3):c.739A>G (p.Ile247Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1599423",
        "RCV": [
          "RCV002115891",
          "RCV003438948"
        ],
        "variationId": 1599423
      }
    ]
  },
  "type": "amino-acid"
}