{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825632363",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 382,
          "referenceAllele": "N",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004237",
      "geneNCBI_id": 2672,
      "geneSymbol": "GFI1",
      "hgvs": [
        "NP_001120688.1:p.Asn382Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119872",
          "hgvs": "NM_001127216.3:c.1145A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152025"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23778[alleleid]",
        "alleleId": 23778,
        "preferredName": "NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8739",
        "RCV": [
          "RCV000009278",
          "RCV001090225"
        ],
        "variationId": 8739
      }
    ]
  },
  "type": "amino-acid"
}