{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA191932",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 416,
          "referenceAllele": "M",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Met416Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA191930",
          "hgvs": "NM_002485.5:c.1248G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371656271",
          "hgvs": "NM_002485.5:c.1248G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371656272",
          "hgvs": "NM_002485.5:c.1248G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182855[alleleid]",
        "alleleId": 182855,
        "preferredName": "NM_002485.5(NBN):c.1248G>T (p.Met416Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809237[alleleid]",
        "alleleId": 809237,
        "preferredName": "NM_002485.5(NBN):c.1248G>A (p.Met416Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/185430",
        "RCV": [
          "RCV000164855",
          "RCV000534913",
          "RCV003468723",
          "RCV001582649"
        ],
        "variationId": 185430
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/818703",
        "RCV": [
          "RCV001010556",
          "RCV002295316"
        ],
        "variationId": 818703
      }
    ]
  },
  "type": "amino-acid"
}