{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825649751",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 707,
          "referenceAllele": "R",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NP_001121132.1:p.Arg707Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252166",
          "hgvs": "NM_001127660.2:c.2119C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17319[alleleid]",
        "alleleId": 17319,
        "preferredName": "NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2280",
        "RCV": [
          "RCV000002369",
          "RCV000199654",
          "RCV000239892",
          "RCV000472857",
          "RCV000624830",
          "RCV000778183",
          "RCV001173687",
          "RCV001775061",
          "RCV002247240",
          "RCV002476912",
          "RCV002285136",
          "RCV002508915",
          "RCV003231070",
          "RCV003319157"
        ],
        "variationId": 2280
      }
    ]
  },
  "type": "amino-acid"
}