{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573092513",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 116,
          "referenceAllele": "Q",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001857",
      "geneNCBI_id": 1063,
      "geneSymbol": "CENPF",
      "hgvs": [
        "NP_057427.3:p.Gln116Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344826462",
          "hgvs": "NM_016343.4:c.346C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175164"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1303137[alleleid]",
        "alleleId": 1303137,
        "preferredName": "NM_016343.4(CENPF):c.346C>G (p.Gln116Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1312876",
        "RCV": [
          "RCV001774330",
          "RCV003146236"
        ],
        "variationId": 1312876
      }
    ]
  },
  "type": "amino-acid"
}