{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825791004",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1356,
          "referenceAllele": "A",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_001128715.1:p.Ala1356Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3511657",
          "hgvs": "NM_001135243.2:c.4067C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152876"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=918936[alleleid]",
        "alleleId": 918936,
        "preferredName": "NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/931082",
        "RCV": [
          "RCV001197296",
          "RCV001375216",
          "RCV003425984"
        ],
        "variationId": 931082
      }
    ]
  },
  "type": "amino-acid"
}