{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA270934",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 244,
          "referenceAllele": "I",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "NP_071324.1:p.Ile244Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270932",
          "hgvs": "NM_022041.4:c.730A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177675"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=167388[alleleid]",
        "alleleId": 167388,
        "preferredName": "NM_022041.4(GAN):c.730A>G (p.Ile244Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/157527",
        "RCV": [
          "RCV000144871",
          "RCV000295442",
          "RCV000859286",
          "RCV002381452"
        ],
        "variationId": 157527
      }
    ]
  },
  "type": "amino-acid"
}