{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA013217",
  "communityStandardTitle": [
    "NC_000003.12:g.36993455G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95074[alleleid]",
        "alleleId": 95074,
        "preferredName": "NM_000249.3(MLH1):c.-93G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89600",
        "RCV": [
          "RCV000018636",
          "RCV000075069",
          "RCV000215209",
          "RCV000250465",
          "RCV001596951",
          "RCV001513671",
          "RCV002477216"
        ],
        "variationId": 89600
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37034946G>A?assembly=hg19",
        "id": "chr3:g.37034946G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.36993455G>A?assembly=hg38",
        "id": "chr3:g.36993455G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800734",
        "rs": 1800734
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-37034946-G-A?dataset=gnomad_r2_1",
        "id": "3-37034946-G-A",
        "variant": "3:37034946 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-36993455-G-A?dataset=gnomad_r3",
        "id": "3-36993455-G-A",
        "variant": "3:36993455 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-36993455-G-A?dataset=gnomad_r4",
        "id": "3-36993455-G-A",
        "variant": "3:36993455 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 36993455,
          "referenceAllele": "G",
          "start": 36993454
        }
      ],
      "hgvs": [
        "NC_000003.12:g.36993455G>A",
        "CM000665.2:g.36993455G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 37034946,
          "referenceAllele": "G",
          "start": 37034945
        }
      ],
      "hgvs": [
        "NC_000003.11:g.37034946G>A",
        "CM000665.1:g.37034946G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 37009950,
          "referenceAllele": "G",
          "start": 37009949
        }
      ],
      "hgvs": [
        "NC_000003.10:g.37009950G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5106,
          "referenceAllele": "G",
          "start": 5105
        }
      ],
      "hgvs": [
        "NG_007109.2:g.5106G>A",
        "LRG_216:g.5106G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4850,
          "referenceAllele": "C",
          "start": 4849
        }
      ],
      "hgvs": [
        "NG_008418.1:g.4850C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 99,
          "referenceAllele": "G",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413740.2:c.-93G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416476.2:n.-93G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.2:c.-93G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500979.2:n.-93G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "referenceAllele": "G",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.6:c.-93G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.2:n.-93G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000536378.5:c.-725G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444286.2:n.-725G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.3:c.-93G>A",
        "LRG_216t1:c.-93G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:n.-93G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.1:c.-93G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:n.-93G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.1:c.-725G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:n.-725G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.2:c.-609G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:n.-609G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.2:c.-1038G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:n.-1038G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.2:c.-951G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:n.-951G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.2:c.-1188G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:n.-1188G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.1:c.-719G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:n.-719G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.1:c.-719G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:n.-719G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.1:c.-811G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:n.-811G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.1:c.-1043G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:n.-1043G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.1:c.-1167G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:n.-1167G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.1:c.-377G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:n.-377G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.1:c.-1136G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:n.-1136G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.1:c.-1249G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:n.-1249G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.1:c.-1158G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:n.-1158G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.1:c.-919G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:n.-919G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.1:c.-817G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:n.-817G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.1:c.-914G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:n.-914G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.1:c.-1146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:n.-1146G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.1:c.-93G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:n.-93G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.1:c.-93G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:n.-93G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "referenceAllele": "G",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.1:c.-93G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:n.-93G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522571"
    }
  ],
  "type": "nucleotide"
}