{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827305938",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 123,
          "referenceAllele": "R",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "NP_001317287.1:p.Arg123Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA198568",
          "hgvs": "NM_001330358.2:c.367C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622907"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=185793[alleleid]",
        "alleleId": 185793,
        "preferredName": "NM_005957.5(MTHFR):c.244C>T (p.Arg82Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187870",
        "RCV": [
          "RCV000167590"
        ],
        "variationId": 187870
      }
    ]
  },
  "type": "amino-acid"
}