{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1345062847",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.586A= (p.Lys196=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281860296",
        "rs": 281860296
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10149909,
          "referenceAllele": "A",
          "start": 10149908
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10149909A=",
        "CM000665.2:g.10149909A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10191593,
          "referenceAllele": "A",
          "start": 10191592
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10191593A=",
        "CM000665.1:g.10191593A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10166593,
          "referenceAllele": "A",
          "start": 10166592
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10166593A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13275,
          "referenceAllele": "A",
          "start": 13274
        }
      ],
      "hgvs": [
        "NG_008212.3:g.13275A=",
        "LRG_322:g.13275A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*263A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*263A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "referenceAllele": "A",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.722A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.722A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 767,
          "referenceAllele": "A",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.697A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Lys233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "A",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.586A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Lys196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.586A="
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.586A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Lys196="
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Lys196="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1426,
          "referenceAllele": "A",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.586A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Lys196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 523,
          "referenceAllele": "A",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.463A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Lys155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "referenceAllele": "A",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.722A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825191840",
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "referenceAllele": "A",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.586A=",
        "LRG_322t1:c.586A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Lys196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430943",
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "A",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.463A="
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Lys155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "A",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*140A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*140A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825191840",
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "A",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.586A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Lys196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.586A="
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.586A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Lys196="
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Lys196="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "A",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*140A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*140A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430943",
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "A",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.463A="
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Lys155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}