{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830327395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 161,
          "referenceAllele": "Q",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017989",
      "geneNCBI_id": 116085,
      "geneSymbol": "SLC22A12",
      "hgvs": [
        "NP_700357.1:p.Gln161Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6077325",
          "hgvs": "NM_153378.3:c.482A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182899"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=321196[alleleid]",
        "alleleId": 321196,
        "preferredName": "NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/305239",
        "RCV": [
          "RCV000348762",
          "RCV003546509",
          "RCV003409469",
          "RCV003993926"
        ],
        "variationId": 305239
      }
    ]
  },
  "type": "amino-acid"
}