{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA148177",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 574,
          "referenceAllele": "P",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006297",
      "geneNCBI_id": 3786,
      "geneSymbol": "KCNQ3",
      "hgvs": [
        "NP_004510.1:p.Pro574Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA148176",
          "hgvs": "NM_004519.4:c.1720C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170218"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34263[alleleid]",
        "alleleId": 34263,
        "preferredName": "NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21411",
        "RCV": [
          "RCV000081107",
          "RCV000290815",
          "RCV000384756",
          "RCV000661926",
          "RCV001257744",
          "RCV001529220",
          "RCV002316199",
          "RCV003934846"
        ],
        "variationId": 21411
      }
    ]
  },
  "type": "amino-acid"
}