{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA120940",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 156,
          "referenceAllele": "N",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_000393.4:p.Asn156Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA033016",
          "hgvs": "NM_000402.4:c.[466A>G;292G>A]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA120939",
          "hgvs": "NM_000402.4:c.466A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146945"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25399[alleleid]",
        "alleleId": 25399,
        "preferredName": "NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100055",
        "RCV": [
          "RCV000011073",
          "RCV000079405",
          "RCV000178823",
          "RCV000307631",
          "RCV000477820",
          "RCV000999876",
          "RCV001267359",
          "RCV000761430",
          "RCV001095678"
        ],
        "variationId": 100055
      }
    ]
  },
  "type": "amino-acid"
}