{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA146669",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000713",
      "geneNCBI_id": 410,
      "geneSymbol": "ARSA",
      "hgvs": [
        "NP_000478.3:p.Thr393Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA146668",
          "hgvs": "NM_000487.5:c.1178C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412170049",
          "hgvs": "NM_000487.5:c.1177A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147022"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34036[alleleid]",
        "alleleId": 34036,
        "preferredName": "NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21184",
        "RCV": [
          "RCV000020311",
          "RCV000078937",
          "RCV000675747"
        ],
        "variationId": 21184
      }
    ]
  },
  "type": "amino-acid"
}