{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825964523",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 361,
          "referenceAllele": "F",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002860",
      "geneNCBI_id": 1717,
      "geneSymbol": "DHCR7",
      "hgvs": [
        "NP_001157289.1:p.Phe361Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6162320",
          "hgvs": "NM_001163817.2:c.1083C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381702110",
          "hgvs": "NM_001163817.2:c.1083C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381702119",
          "hgvs": "NM_001163817.2:c.1081T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154896"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=327949[alleleid]",
        "alleleId": 327949,
        "preferredName": "NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1464575[alleleid]",
        "alleleId": 1464575,
        "preferredName": "NM_001360.3(DHCR7):c.1083C>G (p.Phe361Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/305955",
        "RCV": [
          "RCV000292578"
        ],
        "variationId": 305955
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1455459",
        "RCV": [
          "RCV001946599"
        ],
        "variationId": 1455459
      }
    ]
  },
  "type": "amino-acid"
}