{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139751875",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 595,
          "referenceAllele": "S",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "NP_116045.2:p.Ser595Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA387224947",
          "hgvs": "NM_032656.4:c.1784C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179765"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=857637[alleleid]",
        "alleleId": 857637,
        "preferredName": "NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/869422",
        "RCV": [
          "RCV001089512"
        ],
        "variationId": 869422
      }
    ]
  },
  "type": "amino-acid"
}