{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658664538",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 951,
          "referenceAllele": "H",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NP_055178.3:p.His951Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6911606",
          "hgvs": "NM_014363.6:c.2853C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA387537475",
          "hgvs": "NM_014363.6:c.2853C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173652"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=462636[alleleid]",
        "alleleId": 462636,
        "preferredName": "NM_014363.6(SACS):c.2853C>A (p.His951Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3532513[alleleid]",
        "alleleId": 3532513,
        "preferredName": "NM_014363.6(SACS):c.2853C>G (p.His951Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/458262",
        "RCV": [
          "RCV000558806",
          "RCV001835846",
          "RCV002473048"
        ],
        "variationId": 458262
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3373324",
        "RCV": [
          "RCV004778611"
        ],
        "variationId": 3373324
      }
    ]
  },
  "type": "amino-acid"
}