{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125375",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 49,
          "referenceAllele": "L",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NP_000509.1:p.Leu49Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA125374",
          "hgvs": "NM_000518.5:c.146T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147053"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30549[alleleid]",
        "alleleId": 30549,
        "preferredName": "NM_000518.4(HBB):c.146T>C (p.Leu49Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15510",
        "RCV": [
          "RCV000016772"
        ],
        "variationId": 15510
      }
    ]
  },
  "type": "amino-acid"
}