{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830405313",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 246,
          "referenceAllele": "E",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NP_870986.1:p.Glu246Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1144197",
          "hgvs": "NM_181871.4:c.736G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184425"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=696141[alleleid]",
        "alleleId": 696141,
        "preferredName": "NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/767707",
        "RCV": [
          "RCV000946502",
          "RCV001097711",
          "RCV003970661"
        ],
        "variationId": 767707
      }
    ]
  },
  "type": "amino-acid"
}