{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA250118",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 446,
          "referenceAllele": "I",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NP_004637.1:p.Ile446Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250116",
          "hgvs": "NM_004646.4:c.1337T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170341"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71076[alleleid]",
        "alleleId": 71076,
        "preferredName": "NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56437",
        "RCV": [
          "RCV000049850",
          "RCV002513690"
        ],
        "variationId": 56437
      }
    ]
  },
  "type": "amino-acid"
}