{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828058049",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 291,
          "referenceAllele": "V",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001346945.1:p.Val291Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120988",
          "hgvs": "NM_001360016.2:c.871G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580573394",
          "hgvs": "NM_001360016.2:c.[871G>A;202G>A]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580573395",
          "hgvs": "NM_001360016.2:c.[871G>A;376A>G]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25425[alleleid]",
        "alleleId": 25425,
        "preferredName": "NM_000402.4(G6PD):c.961G>A (p.Val321Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10386",
        "RCV": [
          "RCV000011116",
          "RCV000011117",
          "RCV000180545",
          "RCV000405688",
          "RCV000763203",
          "RCV000757320",
          "RCV001250220",
          "RCV001266092",
          "RCV003460452"
        ],
        "variationId": 10386
      }
    ]
  },
  "type": "amino-acid"
}