{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645486002",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 64,
          "referenceAllele": "S",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037234",
      "geneNCBI_id": 79583,
      "geneSymbol": "TMEM231",
      "hgvs": [
        "NP_001070884.2:p.Ser64Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8176301",
          "hgvs": "NM_001077416.2:c.191C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150444"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271936[alleleid]",
        "alleleId": 271936,
        "preferredName": "NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287699",
        "RCV": [
          "RCV000422994",
          "RCV001078551",
          "RCV003910004"
        ],
        "variationId": 287699
      }
    ]
  },
  "type": "amino-acid"
}