{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113139",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 47,
          "referenceAllele": "N",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009689",
      "geneNCBI_id": 5805,
      "geneSymbol": "PTS",
      "hgvs": [
        "NP_000308.1:p.Asn47Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114321",
          "hgvs": "NM_000317.3:c.139A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146863"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15521[alleleid]",
        "alleleId": 15521,
        "preferredName": "NM_000317.3(PTS):c.139A>G (p.Asn47Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/482",
        "RCV": [
          "RCV000000511"
        ],
        "variationId": 482
      }
    ]
  },
  "type": "amino-acid"
}