{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645468629",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 278,
          "referenceAllele": "K",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016873",
      "geneNCBI_id": 9896,
      "geneSymbol": "FIG4",
      "hgvs": [
        "NP_055660.1:p.Lys278Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3955919",
          "hgvs": "NM_014845.6:c.834A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA365220909",
          "hgvs": "NM_014845.6:c.834A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174053"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395001[alleleid]",
        "alleleId": 395001,
        "preferredName": "NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/407082",
        "RCV": [
          "RCV000462434",
          "RCV000662128",
          "RCV000662129",
          "RCV000662127",
          "RCV001573278",
          "RCV000662126",
          "RCV002411445",
          "RCV001662424",
          "RCV003970280"
        ],
        "variationId": 407082
      }
    ]
  },
  "type": "amino-acid"
}