{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA236193",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1147,
          "referenceAllele": "P",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018362",
      "geneNCBI_id": 50939,
      "geneSymbol": "IMPG2",
      "hgvs": [
        "NP_057331.2:p.Pro1147Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA236192",
          "hgvs": "NM_016247.4:c.3439C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175088"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188982[alleleid]",
        "alleleId": 188982,
        "preferredName": "NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191179",
        "RCV": [
          "RCV000171365",
          "RCV000987301",
          "RCV000958677"
        ],
        "variationId": 191179
      }
    ]
  },
  "type": "amino-acid"
}