{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA137766",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 316,
          "referenceAllele": "W",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "NP_077310.1:p.Trp316Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024803",
          "hgvs": "NM_024334.3:c.947G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55320[alleleid]",
        "alleleId": 55320,
        "preferredName": "NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46155",
        "RCV": [
          "RCV000039395",
          "RCV000457565",
          "RCV000766918",
          "RCV000776154",
          "RCV002496628",
          "RCV003372610"
        ],
        "variationId": 46155
      }
    ]
  },
  "type": "amino-acid"
}