{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825803259",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 218,
          "referenceAllele": "Q",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006052",
      "geneNCBI_id": 3614,
      "geneSymbol": "IMPDH1",
      "hgvs": [
        "NP_001136047.1:p.Gln218His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10586358",
          "hgvs": "NM_001142575.2:c.654G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA369168756",
          "hgvs": "NM_001142575.2:c.654G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153450"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=248646[alleleid]",
        "alleleId": 248646,
        "preferredName": "NM_000883.4(IMPDH1):c.984G>C (p.Gln328His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1383833[alleleid]",
        "alleleId": 1383833,
        "preferredName": "NM_000883.4(IMPDH1):c.984G>T (p.Gln328His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/254167",
        "RCV": [
          "RCV000240659"
        ],
        "variationId": 254167
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1388602",
        "RCV": [
          "RCV001908409"
        ],
        "variationId": 1388602
      }
    ]
  },
  "type": "amino-acid"
}