{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827095857",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "referenceAllele": "E",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017759",
      "geneNCBI_id": 23590,
      "geneSymbol": "PDSS1",
      "hgvs": [
        "NP_001308907.1:p.Glu306Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044188",
          "hgvs": "NM_001321978.2:c.917A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624769"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362104[alleleid]",
        "alleleId": 362104,
        "preferredName": "NM_014317.5(PDSS1):c.1108A>C (p.Ser370Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375348",
        "RCV": [
          "RCV000416401"
        ],
        "variationId": 375348
      }
    ]
  },
  "type": "amino-acid"
}