{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA233889",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 70,
          "referenceAllele": "G",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NP_001351.2:p.Gly70Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA233887",
          "hgvs": "NM_001360.3:c.208G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA915948246",
          "hgvs": "NM_001360.3:c.207_208delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177269[alleleid]",
        "alleleId": 177269,
        "preferredName": "NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=693114[alleleid]",
        "alleleId": 693114,
        "preferredName": "NM_001360.3(DHCR7):c.207_208inv (p.Gly70Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166989",
        "RCV": [
          "RCV000153144",
          "RCV000897661",
          "RCV001487990",
          "RCV003917497",
          "RCV002415645"
        ],
        "variationId": 166989
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/706368",
        "RCV": [
          "RCV000876959"
        ],
        "variationId": 706368
      }
    ]
  },
  "type": "amino-acid"
}