{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499270586",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3554,
          "referenceAllele": "S",
          "start": 3553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "NP_005236.2:p.Ser3554Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3165297",
          "hgvs": "NM_005245.4:c.10660T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580071728",
          "hgvs": "NM_005245.4:c.10659_10660delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170892"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1261400[alleleid]",
        "alleleId": 1261400,
        "preferredName": "NM_005245.4(FAT1):c.10660T>G (p.Ser3554Ala)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1909093[alleleid]",
        "alleleId": 1909093,
        "preferredName": "NM_005245.4(FAT1):c.10659_10660delinsTG (p.Ser3554Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1268969",
        "RCV": [
          "RCV001680074"
        ],
        "variationId": 1268969
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2178981",
        "RCV": [
          "RCV002614997"
        ],
        "variationId": 2178981
      }
    ]
  },
  "type": "amino-acid"
}