{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826198709",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 347,
          "referenceAllele": "A",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009453",
      "geneNCBI_id": 5625,
      "geneSymbol": "PRODH",
      "hgvs": [
        "NP_001182155.2:p.Ala347Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116576",
          "hgvs": "NM_001195226.2:c.1039G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA1139666956",
          "hgvs": "NM_001195226.2:c.1038_1039delinsAT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708022"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19048[alleleid]",
        "alleleId": 19048,
        "preferredName": "NM_016335.6(PRODH):c.1363G>T (p.Ala455Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=951329[alleleid]",
        "alleleId": 951329,
        "preferredName": "NM_016335.6(PRODH):c.1362_1363delinsAT (p.Ala455Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4009",
        "RCV": [
          "RCV000004221",
          "RCV000004220",
          "RCV002512744",
          "RCV003430632"
        ],
        "variationId": 4009
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/954759",
        "RCV": [
          "RCV001227275"
        ],
        "variationId": 954759
      }
    ]
  },
  "type": "amino-acid"
}