{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340937",
  "communityStandardTitle": [
    "NC_012920.1:m.12848C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24743[alleleid]",
        "alleleId": 24743,
        "preferredName": "m.12848C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9704",
        "RCV": [
          "RCV000010350"
        ],
        "variationId": 9704
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrMT:g.12848C>T?assembly=hg38",
        "id": "chrMT:g.12848C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606899",
        "rs": 267606899
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "T",
          "end": 12848,
          "referenceAllele": "C",
          "start": 12847
        }
      ],
      "hgvs": [
        "NC_012920.1:m.12848C>T",
        "J01415.2:m.12848C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007461",
      "geneNCBI_id": 4540,
      "geneSymbol": "MT-ND5",
      "hgvs": [
        "ENST00000361567.2:c.512C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354813.2:p.Ala171Val",
        "hgvsWellDefined": "ENSP00000354813.2:p.Ala171Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265545"
    }
  ],
  "type": "nucleotide"
}