{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA226142",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 129,
          "referenceAllele": "N",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NP_000171.1:p.Asn129Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA226141",
          "hgvs": "NM_000180.4:c.387C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397943324",
          "hgvs": "NM_000180.4:c.387C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146730"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104491[alleleid]",
        "alleleId": 104491,
        "preferredName": "NM_000180.4(GUCY2D):c.387C>A (p.Asn129Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98601",
        "RCV": [
          "RCV000084896",
          "RCV001250823"
        ],
        "variationId": 98601
      }
    ]
  },
  "type": "amino-acid"
}