{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA129902",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 39,
          "referenceAllele": "P",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "NP_079405.2:p.Pro39Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129901",
          "hgvs": "NM_025129.5:c.115C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178739"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40597[alleleid]",
        "alleleId": 40597,
        "preferredName": "NM_025129.5(FUZ):c.115C>T (p.Pro39Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31934",
        "RCV": [
          "RCV000024613"
        ],
        "variationId": 31934
      }
    ]
  },
  "type": "amino-acid"
}