{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825149955",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 782,
          "referenceAllele": "Q",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011654",
      "geneNCBI_id": 6949,
      "geneSymbol": "TCOF1",
      "hgvs": [
        "NP_000347.2:p.Gln782Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3511203",
          "hgvs": "NM_000356.4:c.2344C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146901"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227281[alleleid]",
        "alleleId": 227281,
        "preferredName": "NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225484",
        "RCV": [
          "RCV000490303",
          "RCV002225512"
        ],
        "variationId": 225484
      }
    ]
  },
  "type": "amino-acid"
}