{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825150204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 1387,
          "referenceAllele": "A",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_000347.2:p.Ala1387Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3511755",
          "hgvs": "NM_000356.4:c.4159G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146901"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1171378[alleleid]",
        "alleleId": 1171378,
        "preferredName": "NM_001371623.1(TCOF1):c.4393G>C (p.Ala1465Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1183934",
        "RCV": [
          "RCV001541873",
          "RCV003284372",
          "RCV003530195"
        ],
        "variationId": 1183934
      }
    ]
  },
  "type": "amino-acid"
}