{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA486946548",
  "communityStandardTitle": [
    "NM_133510.4(RAD51B):c.957G>A (p.Gln319=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6141050",
        "active": true,
        "id": "COSM6141050"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6141051",
        "active": true,
        "id": "COSM6141051"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6141052",
        "active": true,
        "id": "COSM6141052"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6141053",
        "active": true,
        "id": "COSM6141053"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2192840[alleleid]",
        "alleleId": 2192840,
        "preferredName": "NM_133510.4(RAD51B):c.957G>A (p.Gln319=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2203761",
        "RCV": [
          "RCV002664377"
        ],
        "variationId": 2203761
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.68878244G>A?assembly=hg19",
        "id": "chr14:g.68878244G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368278073",
        "rs": 368278073
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 68411527,
          "referenceAllele": "G",
          "start": 68411526
        }
      ],
      "hgvs": [
        "NC_000014.9:g.68411527G>A",
        "CM000676.2:g.68411527G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 68878244,
          "referenceAllele": "G",
          "start": 68878243
        }
      ],
      "hgvs": [
        "NC_000014.8:g.68878244G>A",
        "CM000676.1:g.68878244G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 67947997,
          "referenceAllele": "G",
          "start": 67947996
        }
      ],
      "hgvs": [
        "NC_000014.7:g.67947997G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596736,
          "referenceAllele": "G",
          "start": 596735
        }
      ],
      "hgvs": [
        "NG_023267.1:g.596736G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596749,
          "referenceAllele": "G",
          "start": 596748
        }
      ],
      "hgvs": [
        "NG_023267.2:g.596749G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616264"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000460526.6:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518559.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000471583.6:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418859.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825219",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000471583.6:c.957G>A"
          },
          "RefSeq": {
            "hgvs": "NM_133510.4:c.957G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418859.1:p.Gln319="
          },
          "RefSeq": {
            "hgvs": "NP_598194.1:p.Gln319="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000460526.5:n.276G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000468382.5:n.750G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "referenceAllele": "G",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000469165.6:n.276G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000471583.5:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418859.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "G",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000478014.5:n.304G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000479335.5:c.*728G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417408.1:n.*728G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000487270.5:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419471.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000487861.5:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419881.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 984,
          "referenceAllele": "G",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000488612.5:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420061.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 417,
          "referenceAllele": "G",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000497460.5:n.417G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000553595.5:n.613G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 154,
          "referenceAllele": "G",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000554183.1:n.154G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000554244.5:n.339G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18,
          "referenceAllele": "G",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000554575.2:c.18G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451616.1:p.Gln6="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "referenceAllele": "G",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "ENST00000557045.5:n.315G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829392610",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_002877.5:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002868.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028164"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245630",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_133509.3:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_598193.2:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245655",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_133510.3:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_598194.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "XM_005267963.2:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268020.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "XM_011537047.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535349.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "XM_011537048.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535350.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "XM_011537049.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535351.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1328,
          "referenceAllele": "G",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "XR_943503.1:n.1328G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827079581",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321809.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308738.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827079646",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321810.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308739.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827079833",
      "coordinates": [
        {
          "allele": "A",
          "end": 960,
          "referenceAllele": "G",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321812.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308741.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827079971",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321814.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308743.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827080037",
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
          "referenceAllele": "G",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321815.1:c.843G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308744.1:p.Gln281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827080136",
      "coordinates": [
        {
          "allele": "A",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321817.1:c.600G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308746.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827080185",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321818.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308747.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827080239",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321819.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308748.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514514"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827080353",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321821.1:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308750.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "XM_017021545.2:c.1251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877034.1:p.Gln417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "XM_017021546.1:c.654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877035.1:p.Gln218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "XM_017021547.1:c.600G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877036.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572715"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 885,
          "referenceAllele": "G",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "XM_017021548.1:c.225G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877037.1:p.Gln75="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827080136",
      "coordinates": [
        {
          "allele": "A",
          "end": 1132,
          "referenceAllele": "G",
          "start": 1131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321817.2:c.600G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308746.1:p.Gln200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829392610",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_002877.6:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002868.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695663"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245630",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_133509.4:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_598193.2:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245655",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_133510.4:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_598194.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699668",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000471583.6:c.957G>A"
          },
          "RefSeq": {
            "hgvs": "NM_133510.4:c.957G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418859.1:p.Gln319="
          },
          "RefSeq": {
            "hgvs": "NP_598194.1:p.Gln319="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827079581",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321809.2:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308738.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827079646",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321810.2:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308739.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827079971",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321814.2:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308743.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827080185",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321818.2:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308747.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827080353",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_001321821.2:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308750.1:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830245630",
      "coordinates": [
        {
          "allele": "A",
          "end": 1034,
          "referenceAllele": "G",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009822",
      "geneNCBI_id": 5890,
      "geneSymbol": "RAD51B",
      "hgvs": [
        "NM_133509.5:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_598193.2:p.Gln319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729115"
    }
  ],
  "type": "nucleotide"
}