{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA325633",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 76,
          "referenceAllele": "D",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006107",
      "geneNCBI_id": 3651,
      "geneSymbol": "PDX1",
      "hgvs": [
        "NP_000200.1:p.Asp76Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325632",
          "hgvs": "NM_000209.4:c.226G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146758"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23898[alleleid]",
        "alleleId": 23898,
        "preferredName": "NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8859",
        "RCV": [
          "RCV000009409",
          "RCV000030077",
          "RCV000246150",
          "RCV000445407",
          "RCV000626294",
          "RCV000948405",
          "RCV001799501"
        ],
        "variationId": 8859
      }
    ]
  },
  "type": "amino-acid"
}