{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139687917",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 172,
          "referenceAllele": "Y",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NP_000065.1:p.Tyr172His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA414755781",
          "hgvs": "NM_000074.3:c.514T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146626"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=849681[alleleid]",
        "alleleId": 849681,
        "preferredName": "NM_000074.3(CD40LG):c.514T>C (p.Tyr172His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/855047",
        "RCV": [
          "RCV001060218"
        ],
        "variationId": 855047
      }
    ]
  },
  "type": "amino-acid"
}