{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120597",
  "communityStandardTitle": [
    "NC_012920.1:m.9176T>C"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24683[alleleid]",
        "alleleId": 24683,
        "preferredName": "NC_012920.1(MT-ATP6):m.9176T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9644",
        "RCV": [
          "RCV000010279",
          "RCV000010278",
          "RCV000754652",
          "RCV001027501",
          "RCV001542707",
          "RCV002251425",
          "RCV002260585",
          "RCV004554599"
        ],
        "variationId": 9644
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrMT:g.9176T>C?assembly=hg38",
        "id": "chrMT:g.9176T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199476135",
        "rs": 199476135
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "C",
          "end": 9176,
          "referenceAllele": "T",
          "start": 9175
        }
      ],
      "hgvs": [
        "NC_012920.1:m.9176T>C",
        "J01415.2:m.9176T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "referenceAllele": "T",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007414",
      "geneNCBI_id": 4508,
      "geneSymbol": "MT-ATP6",
      "hgvs": [
        "ENST00000361899.2:c.650T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354632.2:p.Leu217Pro",
        "hgvsWellDefined": "ENSP00000354632.2:p.Leu217Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265699"
    }
  ],
  "type": "nucleotide"
}