{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA181121",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 393,
          "referenceAllele": "K",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NP_000209.2:p.Lys393Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA005477",
          "hgvs": "NM_000218.3:c.1179G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379134739",
          "hgvs": "NM_000218.3:c.1179G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146767"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77916[alleleid]",
        "alleleId": 77916,
        "preferredName": "NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3232909[alleleid]",
        "alleleId": 3232909,
        "preferredName": "NM_000218.3(KCNQ1):c.1179G>C (p.Lys393Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67020",
        "RCV": [
          "RCV000057570",
          "RCV000148543",
          "RCV000154657",
          "RCV000394030",
          "RCV000305127",
          "RCV000394039",
          "RCV000306809",
          "RCV001094051",
          "RCV000852645",
          "RCV002336208",
          "RCV001841659"
        ],
        "variationId": 67020
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3075342",
        "RCV": [
          "RCV004015868"
        ],
        "variationId": 3075342
      }
    ]
  },
  "type": "amino-acid"
}