{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3072129051",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 144,
          "referenceAllele": "S",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021092",
      "geneNCBI_id": 79865,
      "geneSymbol": "TREML2",
      "hgvs": [
        "NP_079083.2:p.Ser144Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA364052939",
          "hgvs": "NM_024807.4:c.430A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178557"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4446113[alleleid]",
        "alleleId": 4446113,
        "preferredName": "NM_024807.4(TREML2):c.430A>T (p.Ser144Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4327993",
        "RCV": [
          "RCV005984321"
        ],
        "variationId": 4327993
      }
    ]
  },
  "type": "amino-acid"
}