{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645465885",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Ala400Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4802781",
          "hgvs": "NM_002485.5:c.1198G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16612365",
          "hgvs": "NM_002485.5:c.1197_1198delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233659[alleleid]",
        "alleleId": 233659,
        "preferredName": "NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=396309[alleleid]",
        "alleleId": 396309,
        "preferredName": "NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/232551",
        "RCV": [
          "RCV000217029",
          "RCV000988085",
          "RCV002478803"
        ],
        "variationId": 232551
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411760",
        "RCV": [
          "RCV000474157",
          "RCV000486277",
          "RCV001797729",
          "RCV001805080"
        ],
        "variationId": 411760
      }
    ]
  },
  "type": "amino-acid"
}