{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120628",
  "communityStandardTitle": [
    "NC_012920.1:m.12706T>C"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24737[alleleid]",
        "alleleId": 24737,
        "preferredName": "NC_012920.1(MT-ND5):m.12706T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9698",
        "RCV": [
          "RCV000010338",
          "RCV000144015",
          "RCV002247308",
          "RCV002260591"
        ],
        "variationId": 9698
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrMT:g.12706T>C?assembly=hg38",
        "id": "chrMT:g.12706T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606893",
        "rs": 267606893
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "C",
          "end": 12706,
          "referenceAllele": "T",
          "start": 12705
        }
      ],
      "hgvs": [
        "NC_012920.1:m.12706T>C",
        "J01415.2:m.12706T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 370,
          "referenceAllele": "T",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007461",
      "geneNCBI_id": 4540,
      "geneSymbol": "MT-ND5",
      "hgvs": [
        "ENST00000361567.2:c.370T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354813.2:p.Phe124Leu",
        "hgvsWellDefined": "ENSP00000354813.2:p.Phe124Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265545"
    }
  ],
  "type": "nucleotide"
}