{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA144491",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4,
          "referenceAllele": "S",
          "start": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NP_001135773.1:p.Ser4Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA144487",
          "hgvs": "NM_001142301.1:c.10T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71421[alleleid]",
        "alleleId": 71421,
        "preferredName": "NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56782",
        "RCV": [
          "RCV000050195",
          "RCV002514271"
        ],
        "variationId": 56782
      }
    ]
  },
  "type": "amino-acid"
}