{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6600601",
  "communityStandardTitle": [
    "NM_020547.3(AMHR2):c.1412G>A (p.Arg471His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4661376",
        "active": true,
        "id": "COSM4661376"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3043352[alleleid]",
        "alleleId": 3043352,
        "preferredName": "NM_020547.3(AMHR2):c.1412G>A (p.Arg471His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2884050",
        "RCV": [
          "RCV003724230"
        ],
        "variationId": 2884050
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-53824053-G-A",
        "id": "12-53824053-G-A",
        "variant": "12:53824053 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.53824053G>A?assembly=hg19",
        "id": "chr12:g.53824053G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.53430269G>A?assembly=hg38",
        "id": "chr12:g.53430269G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767904039",
        "rs": 767904039
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-53824053-G-A?dataset=gnomad_r2_1",
        "id": "12-53824053-G-A",
        "variant": "12:53824053 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-53430269-G-A?dataset=gnomad_r3",
        "id": "12-53430269-G-A",
        "variant": "12:53430269 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-53430269-G-A?dataset=gnomad_r4",
        "id": "12-53430269-G-A",
        "variant": "12:53430269 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 53430269,
          "referenceAllele": "G",
          "start": 53430268
        }
      ],
      "hgvs": [
        "NC_000012.12:g.53430269G>A",
        "CM000674.2:g.53430269G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 53824053,
          "referenceAllele": "G",
          "start": 53824052
        }
      ],
      "hgvs": [
        "NC_000012.11:g.53824053G>A",
        "CM000674.1:g.53824053G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 52110320,
          "referenceAllele": "G",
          "start": 52110319
        }
      ],
      "hgvs": [
        "NC_000012.10:g.52110320G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11415,
          "referenceAllele": "G",
          "start": 11414
        }
      ],
      "hgvs": [
        "NG_015981.1:g.11415G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002934"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "ENST00000257863.9:c.1412G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257863.3:p.Arg471His",
        "hgvsWellDefined": "ENSP00000257863.3:p.Arg471His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257863.9:c.1412G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020547.3:c.1412G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257863.3:p.Arg471His"
          },
          "RefSeq": {
            "hgvs": "NP_065434.1:p.Arg471His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "ENST00000257863.8:c.1412G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000257863.3:p.Arg471His",
        "hgvsWellDefined": "ENSP00000257863.3:p.Arg471His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "endIntronDirection": "+",
          "endIntronOffset": 644,
          "referenceAllele": "G",
          "start": 1140,
          "startIntronDirection": "+",
          "startIntronOffset": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "ENST00000379791.7:c.1140+644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369117.3:n.1140+644G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1477,
          "referenceAllele": "G",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "ENST00000550311.5:c.1408G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446661.1:p.Ala470Thr",
        "hgvsWellDefined": "ENSP00000446661.1:p.Ala470Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "referenceAllele": "G",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "ENST00000550839.1:c.503G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455338.1:p.Arg168His",
        "hgvsWellDefined": "ENSP00000455338.1:p.Arg168His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "ENST00000552233.5:n.1167G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000579",
      "coordinates": [
        {
          "allele": "A",
          "end": 1488,
          "referenceAllele": "G",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "NM_001164690.1:c.1408G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158162.1:p.Ala470Thr",
        "hgvsWellDefined": "NP_001158162.1:p.Ala470Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "endIntronDirection": "+",
          "endIntronOffset": 644,
          "referenceAllele": "G",
          "start": 1220,
          "startIntronDirection": "+",
          "startIntronOffset": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "NM_001164691.1:c.1140+644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158163.1:n.1140+644G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014622"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741971720",
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "NM_020547.2:c.1412G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065434.1:p.Arg471His",
        "hgvsWellDefined": "NP_065434.1:p.Arg471His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1552,
          "referenceAllele": "G",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538173.1:c.1472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536475.1:p.Arg491His",
        "hgvsWellDefined": "XP_011536475.1:p.Arg491His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1549,
          "referenceAllele": "G",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538174.1:c.1469G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536476.1:p.Arg490His",
        "hgvsWellDefined": "XP_011536476.1:p.Arg490His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538175.1:c.1454G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536477.1:p.Arg485His",
        "hgvsWellDefined": "XP_011536477.1:p.Arg485His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538176.1:c.1415G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536478.1:p.Arg472His",
        "hgvsWellDefined": "XP_011536478.1:p.Arg472His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1474,
          "referenceAllele": "G",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538177.1:c.1394G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536479.1:p.Arg465His",
        "hgvsWellDefined": "XP_011536479.1:p.Arg465His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1333,
          "referenceAllele": "G",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538178.1:c.1253G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536480.1:p.Arg418His",
        "hgvsWellDefined": "XP_011536480.1:p.Arg418His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1280,
          "endIntronDirection": "+",
          "endIntronOffset": 644,
          "referenceAllele": "G",
          "start": 1280,
          "startIntronDirection": "+",
          "startIntronOffset": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538179.1:c.1200+644G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536481.1:n.1200+644G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538180.1:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536482.1:p.Arg380His",
        "hgvsWellDefined": "XP_011536482.1:p.Arg380His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538181.1:c.1136G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536483.1:p.Arg379His",
        "hgvsWellDefined": "XP_011536483.1:p.Arg379His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538182.1:c.1061G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536484.1:p.Arg354His",
        "hgvsWellDefined": "XP_011536484.1:p.Arg354His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538183.1:c.1324G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536485.1:p.Ala442Thr",
        "hgvsWellDefined": "XP_011536485.1:p.Ala442Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "endIntronDirection": "+",
          "endIntronOffset": 624,
          "referenceAllele": "G",
          "start": 1300,
          "startIntronDirection": "+",
          "startIntronOffset": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538184.1:c.1220+624G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536486.1:n.1220+624G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "endIntronDirection": "-",
          "endIntronOffset": 907,
          "referenceAllele": "G",
          "start": 935,
          "startIntronDirection": "-",
          "startIntronOffset": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538185.1:c.856-908G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536487.1:n.856-908G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538186.1:c.587G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536488.1:p.Arg196His",
        "hgvsWellDefined": "XP_011536488.1:p.Arg196His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105143"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826000579",
      "coordinates": [
        {
          "allele": "A",
          "end": 1488,
          "referenceAllele": "G",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "NM_001164690.2:c.1408G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158162.1:p.Ala470Thr",
        "hgvsWellDefined": "NP_001158162.1:p.Ala470Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "endIntronDirection": "+",
          "endIntronOffset": 644,
          "referenceAllele": "G",
          "start": 1220,
          "startIntronDirection": "+",
          "startIntronOffset": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "NM_001164691.2:c.1140+644G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158163.1:n.1140+644G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511665"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741971720",
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "NM_020547.3:c.1412G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065434.1:p.Arg471His",
        "hgvsWellDefined": "NP_065434.1:p.Arg471His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000257863.9:c.1412G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020547.3:c.1412G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000257863.3:p.Arg471His"
          },
          "RefSeq": {
            "hgvs": "NP_065434.1:p.Arg471His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538183.2:c.1324G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536485.1:p.Ala442Thr",
        "hgvsWellDefined": "XP_011536485.1:p.Ala442Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1300,
          "endIntronDirection": "+",
          "endIntronOffset": 624,
          "referenceAllele": "G",
          "start": 1300,
          "startIntronDirection": "+",
          "startIntronOffset": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538184.2:c.1220+624G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536486.1:n.1220+624G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_011538186.3:c.587G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536488.1:p.Arg196His",
        "hgvsWellDefined": "XP_011536488.1:p.Arg196His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553179"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1428,
          "endIntronDirection": "+",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 1428,
          "startIntronDirection": "+",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_017019179.2:c.1348+291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874668.1:n.1348+291G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "endIntronDirection": "+",
          "endIntronOffset": 644,
          "referenceAllele": "G",
          "start": 1223,
          "startIntronDirection": "+",
          "startIntronOffset": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XM_024448938.1:c.1143+644G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304706.1:n.1143+644G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XR_002957309.1:n.1380G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "G",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XR_002957310.1:n.1232G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1256,
          "endIntronDirection": "+",
          "endIntronOffset": 291,
          "referenceAllele": "G",
          "start": 1256,
          "startIntronDirection": "+",
          "startIntronOffset": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XR_002957311.1:n.1256+291G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1108,
          "endIntronDirection": "+",
          "endIntronOffset": 644,
          "referenceAllele": "G",
          "start": 1108,
          "startIntronDirection": "+",
          "startIntronOffset": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000465",
      "geneNCBI_id": 269,
      "geneSymbol": "AMHR2",
      "hgvs": [
        "XR_002957312.1:n.1108+644G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603448"
    }
  ],
  "type": "nucleotide"
}