{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA145843",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 52,
          "referenceAllele": "A",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NP_000171.1:p.Ala52Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA145842",
          "hgvs": "NM_000180.4:c.154G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146730"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24392[alleleid]",
        "alleleId": 24392,
        "preferredName": "NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9353",
        "RCV": [
          "RCV000009947",
          "RCV000078318",
          "RCV000084835",
          "RCV001518075",
          "RCV002225071",
          "RCV002490349"
        ],
        "variationId": 9353
      }
    ]
  },
  "type": "amino-acid"
}