{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125806",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48,
          "referenceAllele": "D",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004823",
      "geneNCBI_id": 3039,
      "geneSymbol": "HBA1",
      "hgvs": [
        "NP_000549.1:p.Asp48Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA125805",
          "hgvs": "NM_000558.5:c.143A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147092"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30810[alleleid]",
        "alleleId": 30810,
        "preferredName": "NM_000558.3(HBA1):c.143A>G (p.Asp48Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15771",
        "RCV": [
          "RCV000017085",
          "RCV000017087",
          "RCV000017086",
          "RCV000017088",
          "RCV000017089",
          "RCV000017090",
          "RCV000017091",
          "RCV000017083",
          "RCV000017084"
        ],
        "variationId": 15771
      }
    ]
  },
  "type": "amino-acid"
}