{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125361",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 147,
          "referenceAllele": "H",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NP_000509.1:p.His147Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA125360",
          "hgvs": "NM_000518.5:c.441C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA125513",
          "hgvs": "NM_000518.5:c.441C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147053"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30537[alleleid]",
        "alleleId": 30537,
        "preferredName": "NM_000518.5(HBB):c.441C>A (p.His147Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30640[alleleid]",
        "alleleId": 30640,
        "preferredName": "NM_000518.5(HBB):c.441C>G (p.His147Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15498",
        "RCV": [
          "RCV000016760"
        ],
        "variationId": 15498
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15601",
        "RCV": [
          "RCV000016868"
        ],
        "variationId": 15601
      }
    ]
  },
  "type": "amino-acid"
}