{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573170119",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 117,
          "referenceAllele": "E",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NP_000508.1:p.Glu117Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA276415405",
          "hgvs": "NM_000517.6:c.349G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671355[alleleid]",
        "alleleId": 1671355,
        "preferredName": "NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679435",
        "RCV": [
          "RCV002227314",
          "RCV003388105"
        ],
        "variationId": 1679435
      }
    ]
  },
  "type": "amino-acid"
}