{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916008255",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 196,
          "referenceAllele": "S",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NP_001238949.1:p.Ser196Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221943",
          "hgvs": "NM_001252020.2:c.587C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159294"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99965[alleleid]",
        "alleleId": 99965,
        "preferredName": "NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94063",
        "RCV": [
          "RCV000080008",
          "RCV000763957",
          "RCV000787888",
          "RCV003935039"
        ],
        "variationId": 94063
      }
    ]
  },
  "type": "amino-acid"
}