{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099341",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 209,
          "referenceAllele": "S",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029666",
      "geneNCBI_id": 123263,
      "geneSymbol": "MTFMT",
      "hgvs": [
        "NP_640335.2:p.Ser209Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130599",
          "hgvs": "NM_139242.4:c.626C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181550"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48426[alleleid]",
        "alleleId": 48426,
        "preferredName": "NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39827",
        "RCV": [
          "RCV000033047",
          "RCV000190888",
          "RCV000320667",
          "RCV000415235",
          "RCV000735417",
          "RCV002251943",
          "RCV002513312",
          "RCV002477042"
        ],
        "variationId": 39827
      }
    ]
  },
  "type": "amino-acid"
}