{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573094210",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "referenceAllele": "R",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "NP_065574.4:p.Arg482Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA257984",
          "hgvs": "NM_020549.5:c.1444A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739873"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32548[alleleid]",
        "alleleId": 32548,
        "preferredName": "NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17509",
        "RCV": [
          "RCV000019061",
          "RCV002274884"
        ],
        "variationId": 17509
      }
    ]
  },
  "type": "amino-acid"
}