{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827611863",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 75,
          "referenceAllele": "T",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NP_001338426.1:p.Thr75Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5170365",
          "hgvs": "NM_001351497.2:c.224C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA374331673",
          "hgvs": "NM_001351497.2:c.223A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625736"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459180[alleleid]",
        "alleleId": 459180,
        "preferredName": "NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/459221",
        "RCV": [
          "RCV000557459",
          "RCV002438328",
          "RCV004537911",
          "RCV003144321"
        ],
        "variationId": 459221
      }
    ]
  },
  "type": "amino-acid"
}