{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499290482",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 686,
          "referenceAllele": "S",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023109",
      "geneNCBI_id": 79633,
      "geneSymbol": "FAT4",
      "hgvs": [
        "NP_078858.4:p.Ser686Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3072107",
          "hgvs": "NM_024582.6:c.2057G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178367"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1186703[alleleid]",
        "alleleId": 1186703,
        "preferredName": "NM_001291303.3(FAT4):c.2057G>A (p.Ser686Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1198187",
        "RCV": [
          "RCV001562265",
          "RCV003931192"
        ],
        "variationId": 1198187
      }
    ]
  },
  "type": "amino-acid"
}