{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573254095",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 129,
          "referenceAllele": "F",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003808",
      "geneNCBI_id": 2301,
      "geneSymbol": "FOXE3",
      "hgvs": [
        "NP_036318.1:p.Phe129Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340249813",
          "hgvs": "NM_012186.3:c.385T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA340249821",
          "hgvs": "NM_012186.3:c.387C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA340249822",
          "hgvs": "NM_012186.3:c.387C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172915"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1438257[alleleid]",
        "alleleId": 1438257,
        "preferredName": "NM_012186.3(FOXE3):c.387C>G (p.Phe129Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1424381",
        "RCV": [
          "RCV001921609"
        ],
        "variationId": 1424381
      }
    ]
  },
  "type": "amino-acid"
}