{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA129422",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 216,
          "referenceAllele": "F",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016877",
      "geneNCBI_id": 9927,
      "geneSymbol": "MFN2",
      "hgvs": [
        "NP_055689.1:p.Phe216Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129420",
          "hgvs": "NM_014874.4:c.647T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39693[alleleid]",
        "alleleId": 39693,
        "preferredName": "NM_014874.4(MFN2):c.647T>C (p.Phe216Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30736",
        "RCV": [
          "RCV000023714",
          "RCV000235670",
          "RCV000456775"
        ],
        "variationId": 30736
      }
    ]
  },
  "type": "amino-acid"
}