{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA77722769",
  "communityStandardTitle": [
    "NC_000003.12:g.75937566G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4158660"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=508790[alleleid]",
        "alleleId": 508790,
        "preferredName": "NM_001128929.3(ROBO2):c.73G>A (p.Val25Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/518349",
        "RCV": [
          "RCV000611343",
          "RCV003965298"
        ],
        "variationId": 518349
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.75937566G>A?assembly=hg38",
        "id": "chr3:g.75937566G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/78834776",
        "rs": 78834776
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 75937566,
          "referenceAllele": "G",
          "start": 75937565
        }
      ],
      "hgvs": [
        "NC_000003.12:g.75937566G>A",
        "CM000665.2:g.75937566G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35873,
          "referenceAllele": "G",
          "start": 35872
        }
      ],
      "hgvs": [
        "NG_027734.1:g.35873G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35873,
          "referenceAllele": "G",
          "start": 35872
        }
      ],
      "hgvs": [
        "NG_027734.2:g.35873G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673744"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "G",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "ENST00000471893.2:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418190.2:p.Val25Met",
        "hgvsWellDefined": "ENSP00000418190.2:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "ENST00000696629.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512766.1:p.Val25Met",
        "hgvsWellDefined": "ENSP00000512766.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "ENST00000696630.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512767.1:p.Val25Met",
        "hgvsWellDefined": "ENSP00000512767.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908076"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "ENST00000487694.7:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417335.2:p.Val25Met",
        "hgvsWellDefined": "ENSP00000417335.2:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "G",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "ENST00000602589.5:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473268.1:p.Val25Met",
        "hgvsWellDefined": "ENSP00000473268.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658805719",
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "NM_001128929.3:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001122401.1:p.Val25Met",
        "hgvsWellDefined": "NP_001122401.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "XM_017006990.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862479.1:p.Val25Met",
        "hgvsWellDefined": "XP_016862479.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "XM_017006992.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862481.1:p.Val25Met",
        "hgvsWellDefined": "XP_016862481.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "XM_017006996.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862485.1:p.Val25Met",
        "hgvsWellDefined": "XP_016862485.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "XM_017006997.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862486.1:p.Val25Met",
        "hgvsWellDefined": "XP_016862486.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "XM_017007004.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862493.1:p.Val25Met",
        "hgvsWellDefined": "XP_016862493.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "XM_017007005.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862494.1:p.Val25Met",
        "hgvsWellDefined": "XP_016862494.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828742901",
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "NM_001378190.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365119.1:p.Val25Met",
        "hgvsWellDefined": "NP_001365119.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828743152",
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "NM_001378191.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365120.1:p.Val25Met",
        "hgvsWellDefined": "NP_001365120.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828744129",
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "NM_001378195.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365124.1:p.Val25Met",
        "hgvsWellDefined": "NP_001365124.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721554"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828744378",
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "NM_001378196.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365125.1:p.Val25Met",
        "hgvsWellDefined": "NP_001365125.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828745334",
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "NM_001378200.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365129.1:p.Val25Met",
        "hgvsWellDefined": "NP_001365129.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721559"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828745582",
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "NM_001378201.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365130.1:p.Val25Met",
        "hgvsWellDefined": "NP_001365130.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573074890",
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "NM_001378203.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365132.1:p.Val25Met",
        "hgvsWellDefined": "NP_001365132.1:p.Val25Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721562"
    }
  ],
  "type": "nucleotide"
}