{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580193566",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1383,
          "referenceAllele": "S",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003582",
      "geneNCBI_id": 2175,
      "geneSymbol": "FANCA",
      "hgvs": [
        "NP_001273096.1:p.Ser1383Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397484289",
          "hgvs": "NM_001286167.3:c.4149C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397484290",
          "hgvs": "NM_001286167.3:c.4149C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397484295",
          "hgvs": "NM_001286167.3:c.4147A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163244"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2133174[alleleid]",
        "alleleId": 2133174,
        "preferredName": "NM_000135.4(FANCA):c.4149C>G (p.Ser1383Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4370228[alleleid]",
        "alleleId": 4370228,
        "preferredName": "NM_000135.4(FANCA):c.4149C>A (p.Ser1383Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2084285",
        "RCV": [
          "RCV003011061"
        ],
        "variationId": 2084285
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4254212",
        "RCV": [
          "RCV005837903"
        ],
        "variationId": 4254212
      }
    ]
  },
  "type": "amino-acid"
}