{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120633",
  "communityStandardTitle": [
    "NC_012920.1:m.13042G>A"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5652748",
        "active": true,
        "id": "COSM5652748"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24742[alleleid]",
        "alleleId": 24742,
        "preferredName": "m.13042G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9703",
        "RCV": [
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          "RCV000010348",
          "RCV000010349",
          "RCV000854885",
          "RCV002260592"
        ],
        "variationId": 9703
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrMT:g.13042G>A?assembly=hg38",
        "id": "chrMT:g.13042G>A"
      }
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606898",
        "rs": 267606898
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "A",
          "end": 13042,
          "referenceAllele": "G",
          "start": 13041
        }
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        "J01415.2:m.13042G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 706,
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          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007461",
      "geneNCBI_id": 4540,
      "geneSymbol": "MT-ND5",
      "hgvs": [
        "ENST00000361567.2:c.706G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354813.2:p.Ala236Thr",
        "hgvsWellDefined": "ENSP00000354813.2:p.Ala236Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265545"
    }
  ],
  "type": "nucleotide"
}