{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340939",
  "communityStandardTitle": [
    "NC_012920.1:m.11778G>A"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24747[alleleid]",
        "alleleId": 24747,
        "preferredName": "NC_012920.1(MT-ND4):m.11778G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9708",
        "RCV": [
          "RCV000010354",
          "RCV000224219",
          "RCV002260593",
          "RCV002288481",
          "RCV002285007"
        ],
        "variationId": 9708
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrMT:g.11778G>A?assembly=hg38",
        "id": "chrMT:g.11778G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199476112",
        "rs": 199476112
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "A",
          "end": 11778,
          "referenceAllele": "G",
          "start": 11777
        }
      ],
      "hgvs": [
        "NC_012920.1:m.11778G>A",
        "J01415.2:m.11778G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1019,
          "referenceAllele": "G",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007459",
      "geneNCBI_id": 4538,
      "geneSymbol": "MT-ND4",
      "hgvs": [
        "ENST00000361381.2:c.1019G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354961.2:p.Arg340His",
        "hgvsWellDefined": "ENSP00000354961.2:p.Arg340His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265457"
    }
  ],
  "type": "nucleotide"
}