{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825089762",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 215,
          "referenceAllele": "V",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_000209.2:p.Val215Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA039326",
          "hgvs": "NM_000218.3:c.644T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=461128[alleleid]",
        "alleleId": 461128,
        "preferredName": "NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/456868",
        "RCV": [
          "RCV000559784",
          "RCV000764972",
          "RCV004023761"
        ],
        "variationId": 456868
      }
    ]
  },
  "type": "amino-acid"
}