{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916042797",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NP_001341847.1:p.Gly38Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA334489",
          "hgvs": "NM_001354918.1:c.113G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2825001649",
          "hgvs": "NM_001354918.1:c.111_113delinsTGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186111[alleleid]",
        "alleleId": 186111,
        "preferredName": "NM_000264.5(PTCH1):c.113G>T (p.Gly38Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3391551[alleleid]",
        "alleleId": 3391551,
        "preferredName": "NM_000264.5(PTCH1):c.111_113delinsTGT (p.Gly38Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188272",
        "RCV": [
          "RCV000514130",
          "RCV000569065",
          "RCV000605007",
          "RCV001085973",
          "RCV001168741",
          "RCV004552937"
        ],
        "variationId": 188272
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3230929",
        "RCV": [
          "RCV004523043"
        ],
        "variationId": 3230929
      }
    ]
  },
  "type": "amino-acid"
}