{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580122941",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "A",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033186",
      "geneNCBI_id": 440097,
      "geneSymbol": "DBX2",
      "hgvs": [
        "NP_001004329.2:p.Ala150Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6524431",
          "hgvs": "NM_001004329.2:c.448G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2206937[alleleid]",
        "alleleId": 2206937,
        "preferredName": "NM_001004329.3(DBX2):c.448G>A (p.Ala150Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2219619",
        "RCV": [
          "RCV004083600"
        ],
        "variationId": 2219619
      }
    ]
  },
  "type": "amino-acid"
}