{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658730206",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 278,
          "referenceAllele": "S",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Ser278Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371658496",
          "hgvs": "NM_002485.5:c.832T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=487242[alleleid]",
        "alleleId": 487242,
        "preferredName": "NM_002485.5(NBN):c.832T>G (p.Ser278Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496166",
        "RCV": [
          "RCV000589829",
          "RCV000701071",
          "RCV000772494",
          "RCV001355653",
          "RCV003492114"
        ],
        "variationId": 496166
      }
    ]
  },
  "type": "amino-acid"
}