{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125047",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 96,
          "referenceAllele": "K",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NP_000509.1:p.Lys96Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA036550",
          "hgvs": "NM_000518.5:c.[286A>G;19G>A]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA125046",
          "hgvs": "NM_000518.5:c.286A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147053"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30317[alleleid]",
        "alleleId": 30317,
        "preferredName": "NM_000518.5(HBB):c.286A>G (p.Lys96Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15278",
        "RCV": [
          "RCV000016504",
          "RCV000016505",
          "RCV000016506",
          "RCV000016507",
          "RCV000016508",
          "RCV000506157",
          "RCV000755549",
          "RCV001835628"
        ],
        "variationId": 15278
      }
    ]
  },
  "type": "amino-acid"
}