{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825649693",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 649,
          "referenceAllele": "R",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NP_001121132.1:p.Arg649His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA599282",
          "hgvs": "NM_001127660.2:c.1946G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=238137[alleleid]",
        "alleleId": 238137,
        "preferredName": "NM_014874.4(MFN2):c.1946G>A (p.Arg649His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/240945",
        "RCV": [
          "RCV000233537",
          "RCV001196640"
        ],
        "variationId": 240945
      }
    ]
  },
  "type": "amino-acid"
}