{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580286088",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 13,
          "referenceAllele": "D",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004373",
      "geneNCBI_id": 2764,
      "geneSymbol": "GMFB",
      "hgvs": [
        "NP_004115.1:p.Asp13Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7192391",
          "hgvs": "NM_004124.3:c.38A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169857"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2215149[alleleid]",
        "alleleId": 2215149,
        "preferredName": "NM_004124.3(GMFB):c.38A>T (p.Asp13Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2225699",
        "RCV": [
          "RCV004086869"
        ],
        "variationId": 2225699
      }
    ]
  },
  "type": "amino-acid"
}