{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573077224",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 593,
          "referenceAllele": "P",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019125",
      "geneNCBI_id": 121512,
      "geneSymbol": "FGD4",
      "hgvs": [
        "NP_001371055.1:p.Pro593Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA334267",
          "hgvs": "NM_001384126.1:c.1777C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739517"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186163[alleleid]",
        "alleleId": 186163,
        "preferredName": "NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188187",
        "RCV": [
          "RCV000168099",
          "RCV000219132",
          "RCV000857634",
          "RCV001174096",
          "RCV001094112",
          "RCV002381537",
          "RCV003982919"
        ],
        "variationId": 188187
      }
    ]
  },
  "type": "amino-acid"
}