{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573094648",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 92,
          "referenceAllele": "L",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001912",
      "geneNCBI_id": 1103,
      "geneSymbol": "CHAT",
      "hgvs": [
        "NP_066266.4:p.Leu92Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA257990",
          "hgvs": "NM_020986.4:c.275T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738524"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32550[alleleid]",
        "alleleId": 32550,
        "preferredName": "NM_020549.5(CHAT):c.629T>C (p.Leu210Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17511",
        "RCV": [
          "RCV000019063"
        ],
        "variationId": 17511
      }
    ]
  },
  "type": "amino-acid"
}