{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250584",
  "communityStandardTitle": [
    "NC_012920.1:m.6264G>A"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24706[alleleid]",
        "alleleId": 24706,
        "preferredName": "NC_012920.1(MT-CO1):m.6264G>A"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9667",
        "RCV": [
          "RCV000010305",
          "RCV000853954"
        ],
        "variationId": 9667
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrMT:g.6264G>A?assembly=hg38",
        "id": "chrMT:g.6264G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606882",
        "rs": 267606882
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "A",
          "end": 6264,
          "referenceAllele": "G",
          "start": 6263
        }
      ],
      "hgvs": [
        "NC_012920.1:m.6264G>A",
        "J01415.2:m.6264G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007419",
      "geneNCBI_id": 4512,
      "geneSymbol": "MT-CO1",
      "hgvs": [
        "ENST00000361624.2:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354499.2:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000354499.2:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265570"
    }
  ],
  "type": "nucleotide"
}