{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580217872",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NP_001351.2:p.Gly147Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA381694674",
          "hgvs": "NM_001360.3:c.439G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580084860",
          "hgvs": "NM_001360.3:c.438_439delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1791318[alleleid]",
        "alleleId": 1791318,
        "preferredName": "NM_001360.3(DHCR7):c.439G>A (p.Gly147Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1883108[alleleid]",
        "alleleId": 1883108,
        "preferredName": "NM_001360.3(DHCR7):c.438_439inv (p.Gly147Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1740285",
        "RCV": [
          "RCV002333704"
        ],
        "variationId": 1740285
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2156832",
        "RCV": [
          "RCV003075666"
        ],
        "variationId": 2156832
      }
    ]
  },
  "type": "amino-acid"
}