{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828472183",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 372,
          "referenceAllele": "F",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NP_001359234.1:p.Phe372Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256862",
          "hgvs": "NM_001372305.1:c.1116C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406951539",
          "hgvs": "NM_001372305.1:c.1116C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406951548",
          "hgvs": "NM_001372305.1:c.1114T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708436"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28513[alleleid]",
        "alleleId": 28513,
        "preferredName": "NM_004977.3(KCNC3):c.1344C>A (p.Phe448Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=535339[alleleid]",
        "alleleId": 535339,
        "preferredName": "NM_004977.3(KCNC3):c.1344C>G (p.Phe448Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13474",
        "RCV": [
          "RCV000014416"
        ],
        "variationId": 13474
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545048",
        "RCV": [
          "RCV000656265"
        ],
        "variationId": 545048
      }
    ]
  },
  "type": "amino-acid"
}