{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125962",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 141,
          "referenceAllele": "Y",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NP_000549.1:p.Tyr141His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA125961",
          "hgvs": "NM_000558.5:c.421T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147092"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30895[alleleid]",
        "alleleId": 30895,
        "preferredName": "NM_000558.5(HBA1):c.421T>C (p.Tyr141His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2843002[alleleid]",
        "alleleId": 2843002,
        "preferredName": "NM_000517.6(HBA2):c.421T>C (p.Tyr141His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15856",
        "RCV": [
          "RCV000017202",
          "RCV000017201",
          "RCV000641245"
        ],
        "variationId": 15856
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2681967",
        "RCV": [
          "RCV003477259"
        ],
        "variationId": 2681967
      }
    ]
  },
  "type": "amino-acid"
}