{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825792039",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1406,
          "referenceAllele": "K",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_001128717.1:p.Lys1406del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA805587619",
          "hgvs": "NM_001135245.2:c.4206_4208del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152878"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2882972[alleleid]",
        "alleleId": 2882972,
        "preferredName": "NM_001371623.1(TCOF1):c.4434GAA[1] (p.Lys1483del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2728946",
        "RCV": [
          "RCV003530839"
        ],
        "variationId": 2728946
      }
    ]
  },
  "type": "amino-acid"
}