{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829960094",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2,
          "referenceAllele": "A",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "NP_066265.4:p.Ala2Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA152352",
          "hgvs": "NM_020985.4:c.4G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738178"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134173[alleleid]",
        "alleleId": 134173,
        "preferredName": "NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128724",
        "RCV": [
          "RCV000116697",
          "RCV000676662",
          "RCV001519257"
        ],
        "variationId": 128724
      }
    ]
  },
  "type": "amino-acid"
}