{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658662785",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 55,
          "referenceAllele": "T",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NP_055689.1:p.Thr55Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA598749",
          "hgvs": "NM_014874.4:c.163A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA338460152",
          "hgvs": "NM_014874.4:c.164C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=442603[alleleid]",
        "alleleId": 442603,
        "preferredName": "NM_014874.4(MFN2):c.163A>T (p.Thr55Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/451931",
        "RCV": [
          "RCV000534867",
          "RCV000711271",
          "RCV002525222"
        ],
        "variationId": 451931
      }
    ]
  },
  "type": "amino-acid"
}