{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827341440",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 328,
          "referenceAllele": "F",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012874",
      "geneNCBI_id": 7547,
      "geneSymbol": "ZIC3",
      "hgvs": [
        "NP_001317590.1:p.Phe328Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA414771145",
          "hgvs": "NM_001330661.1:c.982T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA414771150",
          "hgvs": "NM_001330661.1:c.984C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA414771151",
          "hgvs": "NM_001330661.1:c.984C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625080"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=939455[alleleid]",
        "alleleId": 939455,
        "preferredName": "NM_003413.4(ZIC3):c.984C>G (p.Phe328Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/936067",
        "RCV": [
          "RCV001204790"
        ],
        "variationId": 936067
      }
    ]
  },
  "type": "amino-acid"
}