{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573211148",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50,
          "referenceAllele": "E",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037261",
      "geneNCBI_id": 401124,
      "geneSymbol": "DTHD1",
      "hgvs": [
        "NP_001365364.1:p.Glu50Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA356678854",
          "hgvs": "NM_001378435.1:c.149A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736262"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1346597[alleleid]",
        "alleleId": 1346597,
        "preferredName": "NM_001170700.3(DTHD1):c.1019A>G (p.Glu340Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1466970",
        "RCV": [
          "RCV001970286"
        ],
        "variationId": 1466970
      }
    ]
  },
  "type": "amino-acid"
}