{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828371434",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 25,
          "referenceAllele": "P",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005870",
      "geneNCBI_id": 3543,
      "geneSymbol": "IGLL1",
      "hgvs": [
        "NP_001356835.1:p.Pro25His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410899534",
          "hgvs": "NM_001369906.1:c.74C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708178"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2983427[alleleid]",
        "alleleId": 2983427,
        "preferredName": "NM_020070.4(IGLL1):c.74C>A (p.Pro25His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2827475",
        "RCV": [
          "RCV003630509"
        ],
        "variationId": 2827475
      }
    ]
  },
  "type": "amino-acid"
}