{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA913172121",
  "communityStandardTitle": [
    "NC_012920.1:m.14800C>A"
  ],
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "A",
          "end": 14800,
          "referenceAllele": "C",
          "start": 14799
        }
      ],
      "hgvs": [
        "NC_012920.1:m.14800C>A",
        "J01415.2:m.14800C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 54,
          "referenceAllele": "C",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007427",
      "geneNCBI_id": 4519,
      "geneSymbol": "MT-CYB",
      "hgvs": [
        "ENST00000361789.2:c.54C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354554.2:p.Phe18Leu",
        "hgvsWellDefined": "ENSP00000354554.2:p.Phe18Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265655"
    }
  ],
  "type": "nucleotide"
}