{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580426370",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128,
          "referenceAllele": "V",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006301",
      "geneNCBI_id": 3788,
      "geneSymbol": "KCNS2",
      "hgvs": [
        "NP_065748.1:p.Val128Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4821404",
          "hgvs": "NM_020697.4:c.383T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177035"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2321042[alleleid]",
        "alleleId": 2321042,
        "preferredName": "NM_020697.4(KCNS2):c.383T>C (p.Val128Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2332156",
        "RCV": [
          "RCV004172829"
        ],
        "variationId": 2332156
      }
    ]
  },
  "type": "amino-acid"
}