{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829576153",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 153,
          "referenceAllele": "A",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NP_005046.2:p.Ala153Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5976741",
          "hgvs": "NM_005055.5:c.457G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA1139661954",
          "hgvs": "NM_005055.5:c.456_457delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170721"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=677436[alleleid]",
        "alleleId": 677436,
        "preferredName": "NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=947498[alleleid]",
        "alleleId": 947498,
        "preferredName": "NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/689780",
        "RCV": [
          "RCV000850591",
          "RCV001105500",
          "RCV001105501",
          "RCV003330969",
          "RCV003467530"
        ],
        "variationId": 689780
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/958558",
        "RCV": [
          "RCV001231749"
        ],
        "variationId": 958558
      }
    ]
  },
  "type": "amino-acid"
}