{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109210",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 84,
          "referenceAllele": "G",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005112",
      "geneNCBI_id": 10481,
      "geneSymbol": "HOXB13",
      "hgvs": [
        "NP_006352.2:p.Gly84Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA288225",
          "hgvs": "NM_006361.6:c.251G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171915"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133488[alleleid]",
        "alleleId": 133488,
        "preferredName": "NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128031",
        "RCV": [
          "RCV000210093",
          "RCV000229815",
          "RCV000561749",
          "RCV000714291",
          "RCV001582580",
          "RCV004549575",
          "RCV003492500",
          "RCV001391199",
          "RCV003335105"
        ],
        "variationId": 128031
      }
    ]
  },
  "type": "amino-acid"
}