{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830321092",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 48,
          "referenceAllele": "G",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NP_695013.1:p.Gly48Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2416005",
          "hgvs": "NM_153281.2:c.142G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182845"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2106637[alleleid]",
        "alleleId": 2106637,
        "preferredName": "NM_033159.4(HYAL1):c.142G>A (p.Gly48Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2060406",
        "RCV": [
          "RCV002947689",
          "RCV004067223"
        ],
        "variationId": 2060406
      }
    ]
  },
  "type": "amino-acid"
}