{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA148750",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1393,
          "referenceAllele": "F",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NP_055917.1:p.Phe1393Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA148749",
          "hgvs": "NM_015102.5:c.4179T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA338047734",
          "hgvs": "NM_015102.5:c.4179T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA338047747",
          "hgvs": "NM_015102.5:c.4177T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174279"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101583[alleleid]",
        "alleleId": 101583,
        "preferredName": "NM_015102.5(NPHP4):c.4179T>A (p.Phe1393Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95686",
        "RCV": [
          "RCV000081719",
          "RCV000476917",
          "RCV001096418",
          "RCV001098156",
          "RCV001528249",
          "RCV004529858"
        ],
        "variationId": 95686
      }
    ]
  },
  "type": "amino-acid"
}