{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110323",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 382,
          "referenceAllele": "F",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012423",
      "geneNCBI_id": 7287,
      "geneSymbol": "TULP1",
      "hgvs": [
        "NP_003313.3:p.Phe382Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254156",
          "hgvs": "NM_003322.6:c.1145T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169116"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22401[alleleid]",
        "alleleId": 22401,
        "preferredName": "NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7362",
        "RCV": [
          "RCV000007787",
          "RCV000132649",
          "RCV002512879",
          "RCV003887856"
        ],
        "variationId": 7362
      }
    ]
  },
  "type": "amino-acid"
}