{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828362497",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 327,
          "referenceAllele": "F",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NP_001356732.1:p.Phe327Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256930",
          "hgvs": "NM_001369803.2:c.979T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA338880411",
          "hgvs": "NM_001369803.2:c.981C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA338880412",
          "hgvs": "NM_001369803.2:c.981C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709833"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28712[alleleid]",
        "alleleId": 28712,
        "preferredName": "NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3000248[alleleid]",
        "alleleId": 3000248,
        "preferredName": "NM_000478.6(ALPL):c.981C>G (p.Phe327Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13673",
        "RCV": [
          "RCV000014664",
          "RCV000207096",
          "RCV000380876",
          "RCV000724148",
          "RCV002504786",
          "RCV004549366"
        ],
        "variationId": 13673
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2840424",
        "RCV": [
          "RCV003716343"
        ],
        "variationId": 2840424
      }
    ]
  },
  "type": "amino-acid"
}