{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580456693",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 3,
          "referenceAllele": "F",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NP_077288.2:p.Phe3Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6747031",
          "hgvs": "NM_024312.5:c.9C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386487094",
          "hgvs": "NM_024312.5:c.9C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386487099",
          "hgvs": "NM_024312.5:c.7T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1884937[alleleid]",
        "alleleId": 1884937,
        "preferredName": "NM_024312.5(GNPTAB):c.9C>G (p.Phe3Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2151371",
        "RCV": [
          "RCV003061306",
          "RCV003274205",
          "RCV003481383"
        ],
        "variationId": 2151371
      }
    ]
  },
  "type": "amino-acid"
}