{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830143263",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108,
          "referenceAllele": "A",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014660",
      "geneNCBI_id": 112398,
      "geneSymbol": "EGLN2",
      "hgvs": [
        "NP_444274.1:p.Ala108Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9452189",
          "hgvs": "NM_053046.4:c.322G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180512"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1785463[alleleid]",
        "alleleId": 1785463,
        "preferredName": "NM_080732.4(EGLN2):c.322G>A (p.Ala108Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1729174",
        "RCV": [
          "RCV004049038"
        ],
        "variationId": 1729174
      }
    ]
  },
  "type": "amino-acid"
}