{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828371450",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 54,
          "referenceAllele": "A",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005870",
      "geneNCBI_id": 3543,
      "geneSymbol": "IGLL1",
      "hgvs": [
        "NP_001356835.1:p.Ala54Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA410899370",
          "hgvs": "NM_001369906.1:c.161C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708178"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3018717[alleleid]",
        "alleleId": 3018717,
        "preferredName": "NM_020070.4(IGLL1):c.161C>A (p.Ala54Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2861241",
        "RCV": [
          "RCV003631060"
        ],
        "variationId": 2861241
      }
    ]
  },
  "type": "amino-acid"
}