{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100970",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 80,
          "referenceAllele": "T",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025186",
      "geneNCBI_id": 339453,
      "geneSymbol": "TMEM240",
      "hgvs": [
        "NP_001108220.1:p.Thr80Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA272848",
          "hgvs": "NM_001114748.2:c.239C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151819"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171042[alleleid]",
        "alleleId": 171042,
        "preferredName": "NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161195",
        "RCV": [
          "RCV000148347",
          "RCV003546479",
          "RCV003493461"
        ],
        "variationId": 161195
      }
    ]
  },
  "type": "amino-acid"
}