{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580139501",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 116,
          "referenceAllele": "D",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018077",
      "geneNCBI_id": 51335,
      "geneSymbol": "NGRN",
      "hgvs": [
        "NP_001028260.2:p.Asp116Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393834538",
          "hgvs": "NM_001033088.3:c.347A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149594"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2260892[alleleid]",
        "alleleId": 2260892,
        "preferredName": "NM_001033088.3(NGRN):c.347A>T (p.Asp116Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2271063",
        "RCV": [
          "RCV004125786"
        ],
        "variationId": 2271063
      }
    ]
  },
  "type": "amino-acid"
}