{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826894381",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 57,
          "referenceAllele": "F",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NP_001291450.1:p.Phe57Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4471191",
          "hgvs": "NM_001304521.2:c.170T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166216"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=438370[alleleid]",
        "alleleId": 438370,
        "preferredName": "NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/444730",
        "RCV": [
          "RCV000513057",
          "RCV001002241",
          "RCV003352900"
        ],
        "variationId": 444730
      }
    ]
  },
  "type": "amino-acid"
}