{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645468462",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 31,
          "referenceAllele": "F",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NP_000294.1:p.Phe31Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7893884",
          "hgvs": "NM_000303.3:c.91T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA7893886",
          "hgvs": "NM_000303.3:c.93C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394695177",
          "hgvs": "NM_000303.3:c.93C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413427[alleleid]",
        "alleleId": 413427,
        "preferredName": "NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3715840[alleleid]",
        "alleleId": 3715840,
        "preferredName": "NM_000303.3(PMM2):c.93C>A (p.Phe31Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425093",
        "RCV": [
          "RCV000487831",
          "RCV000780613",
          "RCV000675084"
        ],
        "variationId": 425093
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3581380",
        "RCV": [
          "RCV005017881"
        ],
        "variationId": 3581380
      }
    ]
  },
  "type": "amino-acid"
}