{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA124621",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 81,
          "referenceAllele": "D",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004831",
      "geneNCBI_id": 3047,
      "geneSymbol": "HBG1",
      "hgvs": [
        "NP_000550.2:p.Asp81Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124620",
          "hgvs": "NM_000559.3:c.241G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147093"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30067[alleleid]",
        "alleleId": 30067,
        "preferredName": "NM_000559.2(HBG1):c.241G>A (p.Asp81Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15028",
        "RCV": [
          "RCV000016169"
        ],
        "variationId": 15028
      }
    ]
  },
  "type": "amino-acid"
}