{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913192497",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 231,
          "referenceAllele": "N",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Asn231Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371658940",
          "hgvs": "NM_002485.5:c.692A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=617484[alleleid]",
        "alleleId": 617484,
        "preferredName": "NM_002485.5(NBN):c.692A>G (p.Asn231Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/628716",
        "RCV": [
          "RCV000773378",
          "RCV000809097",
          "RCV000999052"
        ],
        "variationId": 628716
      }
    ]
  },
  "type": "amino-acid"
}