{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340941",
  "communityStandardTitle": [
    "NC_012920.1:m.4640C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24757[alleleid]",
        "alleleId": 24757,
        "preferredName": "NC_012920.1(MT-ND2):m.4640C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9718",
        "RCV": [
          "RCV000010366",
          "RCV000853787"
        ],
        "variationId": 9718
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrMT:g.4640C>A?assembly=hg38",
        "id": "chrMT:g.4640C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906426",
        "rs": 387906426
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "A",
          "end": 4640,
          "referenceAllele": "C",
          "start": 4639
        }
      ],
      "hgvs": [
        "NC_012920.1:m.4640C>A",
        "J01415.2:m.4640C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007456",
      "geneNCBI_id": 4536,
      "geneSymbol": "MT-ND2",
      "hgvs": [
        "ENST00000361453.3:c.171C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355046.4:p.Ile57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265488"
    }
  ],
  "type": "nucleotide"
}