{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580113386",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 144,
          "referenceAllele": "F",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NP_000294.1:p.Phe144Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394696672",
          "hgvs": "NM_000303.3:c.430T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1910537[alleleid]",
        "alleleId": 1910537,
        "preferredName": "NM_000303.3(PMM2):c.430T>G (p.Phe144Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2185603",
        "RCV": [
          "RCV003317650",
          "RCV002632537"
        ],
        "variationId": 2185603
      }
    ]
  },
  "type": "amino-acid"
}