{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139698515",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 30,
          "referenceAllele": "Q",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308943.1:p.Gln30Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA366745083",
          "hgvs": "NM_001322014.1:c.88C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648400"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=910990[alleleid]",
        "alleleId": 910990,
        "preferredName": "NM_000535.7(PMS2):c.88C>G (p.Gln30Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/924555",
        "RCV": [
          "RCV001185928",
          "RCV002559094"
        ],
        "variationId": 924555
      }
    ]
  },
  "type": "amino-acid"
}