{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573224120",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 322,
          "referenceAllele": "F",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NP_001909.4:p.Phe322Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA969605",
          "hgvs": "NM_001918.5:c.964T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA341334968",
          "hgvs": "NM_001918.5:c.966T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA341334979",
          "hgvs": "NM_001918.5:c.966T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1390816[alleleid]",
        "alleleId": 1390816,
        "preferredName": "NM_001918.5(DBT):c.964T>C (p.Phe322Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1445985",
        "RCV": [
          "RCV001992718"
        ],
        "variationId": 1445985
      }
    ]
  },
  "type": "amino-acid"
}