{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA325010",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 250,
          "referenceAllele": "R",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NP_055689.1:p.Arg250Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325008",
          "hgvs": "NM_014874.4:c.749G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210588[alleleid]",
        "alleleId": 210588,
        "preferredName": "NM_014874.4(MFN2):c.749G>A (p.Arg250Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/214653",
        "RCV": [
          "RCV000464315",
          "RCV000789405",
          "RCV000767172",
          "RCV001706178",
          "RCV002390522",
          "RCV004530168"
        ],
        "variationId": 214653
      }
    ]
  },
  "type": "amino-acid"
}