{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580102169",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 229,
          "referenceAllele": "F",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011935",
      "geneNCBI_id": 959,
      "geneSymbol": "CD40LG",
      "hgvs": [
        "NP_000065.1:p.Phe229Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA414756513",
          "hgvs": "NM_000074.3:c.685T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA414756532",
          "hgvs": "NM_000074.3:c.687T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA414756535",
          "hgvs": "NM_000074.3:c.687T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146626"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1694004[alleleid]",
        "alleleId": 1694004,
        "preferredName": "NM_000074.3(CD40LG):c.687T>G (p.Phe229Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2405053[alleleid]",
        "alleleId": 2405053,
        "preferredName": "NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1701614",
        "RCV": [
          "RCV002276236"
        ],
        "variationId": 1701614
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2431549",
        "RCV": [
          "RCV003140603"
        ],
        "variationId": 2431549
      }
    ]
  },
  "type": "amino-acid"
}