{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA70041962",
  "communityStandardTitle": [
    "NC_000003.12:g.10141775C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=551810[alleleid]",
        "alleleId": 551810,
        "preferredName": "NM_000551.3(VHL):c.-73C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/560736",
        "RCV": [
          "RCV000764456",
          "RCV001148529",
          "RCV001796976"
        ],
        "variationId": 560736
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10183459C>T?assembly=hg19",
        "id": "chr3:g.10183459C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10141775C>T?assembly=hg38",
        "id": "chr3:g.10141775C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1034934219",
        "rs": 1034934219
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10183459-C-T?dataset=gnomad_r2_1",
        "id": "3-10183459-C-T",
        "variant": "3:10183459 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10141775-C-T?dataset=gnomad_r3",
        "id": "3-10141775-C-T",
        "variant": "3:10141775 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10141775-C-T?dataset=gnomad_r4",
        "id": "3-10141775-C-T",
        "variant": "3:10141775 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10141775,
          "referenceAllele": "C",
          "start": 10141774
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141775C>T",
        "CM000665.2:g.10141775C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10183459,
          "referenceAllele": "C",
          "start": 10183458
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183459C>T",
        "CM000665.1:g.10183459C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10158459,
          "referenceAllele": "C",
          "start": 10158458
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158459C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5141,
          "referenceAllele": "C",
          "start": 5140
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5141C>T",
        "LRG_322:g.5141C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.-73C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:n.-73C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.-73C>T",
        "LRG_322t1:c.-73C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:n.-73C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.-73C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.-73C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13,
          "referenceAllele": "C",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.-73C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:n.-73C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.-73C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.-73C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    }
  ],
  "type": "nucleotide"
}