{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125453",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 132,
          "referenceAllele": "Q",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NP_000509.1:p.Gln132His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA125452",
          "hgvs": "NM_000518.5:c.396G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379273679",
          "hgvs": "NM_000518.5:c.396G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147053"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30603[alleleid]",
        "alleleId": 30603,
        "preferredName": "NM_000518.5(HBB):c.396G>C (p.Gln132His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4174162[alleleid]",
        "alleleId": 4174162,
        "preferredName": "NM_000518.5(HBB):c.396G>T (p.Gln132His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15564",
        "RCV": [
          "RCV000016830"
        ],
        "variationId": 15564
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4069116",
        "RCV": [
          "RCV005617971"
        ],
        "variationId": 4069116
      }
    ]
  },
  "type": "amino-acid"
}