{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916027988",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 198,
          "referenceAllele": "R",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NP_001317287.1:p.Arg198Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278053",
          "hgvs": "NM_001330358.2:c.593G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622907"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18558[alleleid]",
        "alleleId": 18558,
        "preferredName": "NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3519",
        "RCV": [
          "RCV001382824",
          "RCV002476918",
          "RCV003460410"
        ],
        "variationId": 3519
      }
    ]
  },
  "type": "amino-acid"
}