{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA279089",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 376,
          "referenceAllele": "M",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NP_055689.1:p.Met376Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA279087",
          "hgvs": "NM_014874.4:c.1126A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213790[alleleid]",
        "alleleId": 213790,
        "preferredName": "NM_014874.4(MFN2):c.1126A>G (p.Met376Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217161",
        "RCV": [
          "RCV000793093",
          "RCV001542541",
          "RCV001552650",
          "RCV002051828",
          "RCV002444815",
          "RCV004530201"
        ],
        "variationId": 217161
      }
    ]
  },
  "type": "amino-acid"
}