{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA137764",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 312,
          "referenceAllele": "R",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028472",
      "geneNCBI_id": 79188,
      "geneSymbol": "TMEM43",
      "hgvs": [
        "NP_077310.1:p.Arg312Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024800",
          "hgvs": "NM_024334.3:c.934C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178269"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45534[alleleid]",
        "alleleId": 45534,
        "preferredName": "NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36873",
        "RCV": [
          "RCV000030555",
          "RCV000039394",
          "RCV000243225",
          "RCV000336793",
          "RCV000756785",
          "RCV001528963",
          "RCV002490427"
        ],
        "variationId": 36873
      }
    ]
  },
  "type": "amino-acid"
}