{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125071",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 122,
          "referenceAllele": "E",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NP_000509.1:p.Glu122Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA037538",
          "hgvs": "NM_000518.5:c.[364G>A;20A>T]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA037973",
          "hgvs": "NM_000518.5:c.[364G>A;34G>A]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA125070",
          "hgvs": "NM_000518.5:c.364G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147053"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30331[alleleid]",
        "alleleId": 30331,
        "preferredName": "NM_000518.4(HBB):c.364G>A (p.Glu122Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15292",
        "RCV": [
          "RCV000016525",
          "RCV000016524",
          "RCV000029993",
          "RCV000202511",
          "RCV000508438",
          "RCV000587075",
          "RCV002476974"
        ],
        "variationId": 15292
      }
    ]
  },
  "type": "amino-acid"
}