{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109585",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 148,
          "referenceAllele": "D",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NP_000294.1:p.Asp148Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA275299",
          "hgvs": "NM_000303.3:c.442G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194820[alleleid]",
        "alleleId": 194820,
        "preferredName": "NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197659",
        "RCV": [
          "RCV000178754",
          "RCV000514031",
          "RCV000624392",
          "RCV003416095"
        ],
        "variationId": 197659
      }
    ]
  },
  "type": "amino-acid"
}