{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580518465",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 678,
          "referenceAllele": "V",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026411",
      "geneNCBI_id": 139324,
      "geneSymbol": "HDX",
      "hgvs": [
        "NP_653258.2:p.Val678Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10463653",
          "hgvs": "NM_144657.5:c.2032G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413762965",
          "hgvs": "NM_144657.5:c.2032G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181693"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2253371[alleleid]",
        "alleleId": 2253371,
        "preferredName": "NM_001177479.2(HDX):c.2032G>T (p.Val678Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2268288",
        "RCV": [
          "RCV004123195"
        ],
        "variationId": 2268288
      }
    ]
  },
  "type": "amino-acid"
}