{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA305554",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 202,
          "referenceAllele": "D",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_000209.2:p.Asp202Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007717",
          "hgvs": "NM_000218.3:c.604G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67745[alleleid]",
        "alleleId": 67745,
        "preferredName": "NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53077",
        "RCV": [
          "RCV000057718",
          "RCV000182091",
          "RCV000620936",
          "RCV001379267",
          "RCV002483052",
          "RCV003236664",
          "RCV003492374",
          "RCV003591645"
        ],
        "variationId": 53077
      }
    ]
  },
  "type": "amino-acid"
}