{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828782678",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 165,
          "referenceAllele": "S",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NP_001365421.1:p.Ser165Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117866",
          "hgvs": "NM_001378492.1:c.494C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736399"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20972[alleleid]",
        "alleleId": 20972,
        "preferredName": "NM_006580.4(CLDN16):c.494C>T (p.Ser165Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5933",
        "RCV": [
          "RCV000006296"
        ],
        "variationId": 5933
      }
    ]
  },
  "type": "amino-acid"
}