{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA123308",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 293,
          "referenceAllele": "R",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NP_005947.3:p.Arg293His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123307",
          "hgvs": "NM_005956.4:c.878G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171542"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28671[alleleid]",
        "alleleId": 28671,
        "preferredName": "NM_005956.4(MTHFD1):c.878G>A (p.Arg293His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13632",
        "RCV": [
          "RCV000014602",
          "RCV002054438",
          "RCV002247337",
          "RCV000880050"
        ],
        "variationId": 13632
      }
    ]
  },
  "type": "amino-acid"
}