{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499255831",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37,
          "referenceAllele": "A",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NP_001364960.1:p.Ala37Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7789747",
          "hgvs": "NM_001378031.1:c.109G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736457"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=997128[alleleid]",
        "alleleId": 997128,
        "preferredName": "NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1001979",
        "RCV": [
          "RCV001298343"
        ],
        "variationId": 1001979
      }
    ]
  },
  "type": "amino-acid"
}