{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580122340",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39,
          "referenceAllele": "G",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000536",
      "geneNCBI_id": 312,
      "geneSymbol": "ANXA13",
      "hgvs": [
        "NP_001003954.1:p.Gly39Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4867594",
          "hgvs": "NM_001003954.3:c.116G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147877"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2209741[alleleid]",
        "alleleId": 2209741,
        "preferredName": "NM_004306.4(ANXA13):c.15+1543G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2217233",
        "RCV": [
          "RCV004083059"
        ],
        "variationId": 2217233
      }
    ]
  },
  "type": "amino-acid"
}