{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916067369",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 251,
          "referenceAllele": "W",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011877",
      "geneNCBI_id": 64699,
      "geneSymbol": "TMPRSS3",
      "hgvs": [
        "NP_115781.1:p.Trp251Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253351",
          "hgvs": "NM_032405.2:c.753G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410373128",
          "hgvs": "NM_032405.2:c.753G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179577"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19983[alleleid]",
        "alleleId": 19983,
        "preferredName": "NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4944",
        "RCV": [
          "RCV000005231",
          "RCV001090983",
          "RCV001375182"
        ],
        "variationId": 4944
      }
    ]
  },
  "type": "amino-acid"
}