{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891859014",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014153",
      "geneNCBI_id": 124093,
      "geneSymbol": "CCDC78",
      "hgvs": [
        "NP_001026907.2:p.Thr426Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7789095",
          "hgvs": "NM_001031737.3:c.1277C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149498"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=570428[alleleid]",
        "alleleId": 570428,
        "preferredName": "NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/573114",
        "RCV": [
          "RCV000694693"
        ],
        "variationId": 573114
      }
    ]
  },
  "type": "amino-acid"
}