{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3249450453",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 500,
          "referenceAllele": "D",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006189",
      "geneNCBI_id": 3714,
      "geneSymbol": "JAG2",
      "hgvs": [
        "NP_660142.1:p.Asp500Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7385942",
          "hgvs": "NM_145159.3:c.1498G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181878"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4795390[alleleid]",
        "alleleId": 4795390,
        "preferredName": "NM_002226.5(JAG2):c.1612G>A (p.Asp538Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4683950",
        "RCV": [
          "RCV006441241"
        ],
        "variationId": 4683950
      }
    ]
  },
  "type": "amino-acid"
}