{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094978",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 181,
          "referenceAllele": "D",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001035810.1:p.Asp181Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA033058",
          "hgvs": "NM_001042351.2:c.[542A>T;376A>G]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA130188",
          "hgvs": "NM_001042351.2:c.542A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150118"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25421[alleleid]",
        "alleleId": 25421,
        "preferredName": "NM_000402.4(G6PD):c.632A>T (p.Asp211Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37203",
        "RCV": [
          "RCV000030892",
          "RCV000507037",
          "RCV000991016",
          "RCV003460496"
        ],
        "variationId": 37203
      }
    ]
  },
  "type": "amino-acid"
}