{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915978247",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "referenceAllele": "A",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "NP_001368.2:p.Ala1995Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6253872",
          "hgvs": "NM_001377.3:c.5983G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167313"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408032[alleleid]",
        "alleleId": 408032,
        "preferredName": "NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419236",
        "RCV": [
          "RCV000483501",
          "RCV000515935",
          "RCV001291051",
          "RCV003401520"
        ],
        "variationId": 419236
      }
    ]
  },
  "type": "amino-acid"
}