{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA314903",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 130,
          "referenceAllele": "L",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004431",
      "geneNCBI_id": 9570,
      "geneSymbol": "GOSR2",
      "hgvs": [
        "NP_473363.1:p.Leu130Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA314901",
          "hgvs": "NM_054022.4:c.388C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180541"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203464[alleleid]",
        "alleleId": 203464,
        "preferredName": "NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/205630",
        "RCV": [
          "RCV000187615",
          "RCV001408579"
        ],
        "variationId": 205630
      }
    ]
  },
  "type": "amino-acid"
}