{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA223672",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1130,
          "referenceAllele": "E",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NP_071900.2:p.Glu1130Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA223670",
          "hgvs": "NM_022455.5:c.3389A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177847"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101948[alleleid]",
        "alleleId": 101948,
        "preferredName": "NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96054",
        "RCV": [
          "RCV000254432",
          "RCV000723620",
          "RCV002453408",
          "RCV003231133"
        ],
        "variationId": 96054
      }
    ]
  },
  "type": "amino-acid"
}