{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA124553",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 147,
          "referenceAllele": "H",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004832",
      "geneNCBI_id": 3048,
      "geneSymbol": "HBG2",
      "hgvs": [
        "NP_000175.1:p.His147Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124552",
          "hgvs": "NM_000184.3:c.439C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146734"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30027[alleleid]",
        "alleleId": 30027,
        "preferredName": "NM_000184.2(HBG2):c.439C>T (p.His147Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14988",
        "RCV": [
          "RCV000016128"
        ],
        "variationId": 14988
      }
    ]
  },
  "type": "amino-acid"
}