{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825809646",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1085,
          "referenceAllele": "T",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NP_001129496.1:p.Thr1085Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10358852",
          "hgvs": "NM_001136024.4:c.3254C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153040"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=580904[alleleid]",
        "alleleId": 580904,
        "preferredName": "NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/588843",
        "RCV": [
          "RCV002315339",
          "RCV002533020",
          "RCV003918168"
        ],
        "variationId": 588843
      }
    ]
  },
  "type": "amino-acid"
}