{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139737814",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 13,
          "referenceAllele": "H",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NP_055494.2:p.His13Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6239307",
          "hgvs": "NM_014679.5:c.39C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382413259",
          "hgvs": "NM_014679.5:c.39C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173903"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=839173[alleleid]",
        "alleleId": 839173,
        "preferredName": "NM_014679.5(CEP57):c.39C>G (p.His13Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/836256",
        "RCV": [
          "RCV001037335"
        ],
        "variationId": 836256
      }
    ]
  },
  "type": "amino-acid"
}