{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645473144",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 842,
          "referenceAllele": "V",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015625",
      "geneNCBI_id": 51594,
      "geneSymbol": "NBAS",
      "hgvs": [
        "NP_056993.2:p.Val842Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA345889621",
          "hgvs": "NM_015909.4:c.2524G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174813"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414823[alleleid]",
        "alleleId": 414823,
        "preferredName": "NM_015909.4(NBAS):c.2524G>T (p.Val842Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427078",
        "RCV": [
          "RCV000489731",
          "RCV002280120"
        ],
        "variationId": 427078
      }
    ]
  },
  "type": "amino-acid"
}