{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573226344",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 346,
          "referenceAllele": "V",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Val346Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371656741",
          "hgvs": "NM_002485.5:c.1036G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371656742",
          "hgvs": "NM_002485.5:c.1036G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1676966[alleleid]",
        "alleleId": 1676966,
        "preferredName": "NM_002485.5(NBN):c.1036G>C (p.Val346Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1836589[alleleid]",
        "alleleId": 1836589,
        "preferredName": "NM_002485.5(NBN):c.1036G>T (p.Val346Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1684941",
        "RCV": [
          "RCV002248033",
          "RCV003308076"
        ],
        "variationId": 1684941
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1772745",
        "RCV": [
          "RCV002394401"
        ],
        "variationId": 1772745
      }
    ]
  },
  "type": "amino-acid"
}