{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830002240",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 44,
          "referenceAllele": "H",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025070",
      "geneNCBI_id": 65057,
      "geneSymbol": "ACD",
      "hgvs": [
        "NP_075065.3:p.His44Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA396356906",
          "hgvs": "NM_022914.3:c.131A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3145253[alleleid]",
        "alleleId": 3145253,
        "preferredName": "NM_001082486.2(ACD):c.140A>G (p.His47Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2995231",
        "RCV": [
          "RCV003850838"
        ],
        "variationId": 2995231
      }
    ]
  },
  "type": "amino-acid"
}