{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830405551",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 507,
          "referenceAllele": "E",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NP_870986.1:p.Glu507Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1143959",
          "hgvs": "NM_181871.4:c.1521A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA342750213",
          "hgvs": "NM_181871.4:c.1521A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184425"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=442635[alleleid]",
        "alleleId": 442635,
        "preferredName": "NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449546",
        "RCV": [
          "RCV000522980",
          "RCV000764980"
        ],
        "variationId": 449546
      }
    ]
  },
  "type": "amino-acid"
}