{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109630",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 223,
          "referenceAllele": "D",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NP_000294.1:p.Asp223Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254234",
          "hgvs": "NM_000303.3:c.669C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394689458",
          "hgvs": "NM_000303.3:c.669C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22753[alleleid]",
        "alleleId": 22753,
        "preferredName": "NM_000303.3(PMM2):c.669C>G (p.Asp223Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835038[alleleid]",
        "alleleId": 2835038,
        "preferredName": "NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7714",
        "RCV": [
          "RCV000008153"
        ],
        "variationId": 7714
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2677894",
        "RCV": [
          "RCV003463305"
        ],
        "variationId": 2677894
      }
    ]
  },
  "type": "amino-acid"
}