{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353618",
  "communityStandardTitle": [
    "NC_012920.1:m.14248dup"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226595[alleleid]",
        "alleleId": 226595,
        "preferredName": "NC_012920.1:m.14248dupC"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224776",
        "RCV": [
          "RCV000210344"
        ],
        "variationId": 224776
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869312882",
        "rs": 869312882
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "MT",
      "coordinates": [
        {
          "allele": "C",
          "end": 14248,
          "referenceAllele": "",
          "start": 14248
        }
      ],
      "hgvs": [
        "NC_012920.1:m.14248dup",
        "J01415.2:m.14248dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000433"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 430,
          "referenceAllele": "",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007462",
      "geneNCBI_id": 4541,
      "geneSymbol": "MT-ND6",
      "hgvs": [
        "ENST00000361681.2:c.430dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354665.2:p.Ala144GlyfsTer4",
        "hgvsWellDefined": "ENSP00000354665.2:p.[Ala144_Tyr148delinsLeuTyrAspTyrGlyArgTer;Arg150_Leu160delinsTer;Gly163_Gly173del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265596"
    }
  ],
  "type": "nucleotide"
}