{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139721956",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 496,
          "referenceAllele": "D",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NP_055689.1:p.Asp496Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA599131",
          "hgvs": "NM_014874.4:c.1488C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA338446993",
          "hgvs": "NM_014874.4:c.1488C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=905100[alleleid]",
        "alleleId": 905100,
        "preferredName": "NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/917367",
        "RCV": [
          "RCV001174305",
          "RCV002286814"
        ],
        "variationId": 917367
      }
    ]
  },
  "type": "amino-acid"
}