{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414803748",
  "communityStandardTitle": [
    "NC_012920.1:m.9804G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=681765[alleleid]",
        "alleleId": 681765,
        "preferredName": "NC_012920.1(MT-CO3):m.9804G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/693229",
        "RCV": [
          "RCV000854583"
        ],
        "variationId": 693229
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrMT:g.9804G>C?assembly=hg38",
        "id": "chrMT:g.9804G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200613617",
        "rs": 200613617
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "C",
          "end": 9804,
          "referenceAllele": "G",
          "start": 9803
        }
      ],
      "hgvs": [
        "NC_012920.1:m.9804G>C",
        "J01415.2:m.9804G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007422",
      "geneNCBI_id": 4514,
      "geneSymbol": "MT-CO3",
      "hgvs": [
        "ENST00000362079.2:c.598G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354982.2:p.Ala200Pro",
        "hgvsWellDefined": "ENSP00000354982.2:p.Ala200Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265778"
    }
  ],
  "type": "nucleotide"
}