{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580220132",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 316,
          "referenceAllele": "T",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_001358552.1:p.Thr316Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3510703",
          "hgvs": "NM_001371623.1:c.946A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706279"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1873547[alleleid]",
        "alleleId": 1873547,
        "preferredName": "NM_001371623.1(TCOF1):c.946A>G (p.Thr316Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2146443",
        "RCV": [
          "RCV003074565"
        ],
        "variationId": 2146443
      }
    ]
  },
  "type": "amino-acid"
}