{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3110975",
  "communityStandardTitle": [
    "NM_001318789.2(TLR2):c.1892C>A (p.Pro631His)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-154625951-C-A",
        "id": "4-154625951-C-A",
        "variant": "4:154625951 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.154625951C>A?assembly=hg19",
        "id": "chr4:g.154625951C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.153704799C>A?assembly=hg38",
        "id": "chr4:g.153704799C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5743704",
        "rs": 5743704
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-154625951-C-A?dataset=gnomad_r2_1",
        "id": "4-154625951-C-A",
        "variant": "4:154625951 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-153704799-C-A?dataset=gnomad_r3",
        "id": "4-153704799-C-A",
        "variant": "4:153704799 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-153704799-C-A?dataset=gnomad_r4",
        "id": "4-153704799-C-A",
        "variant": "4:153704799 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 153704799,
          "referenceAllele": "C",
          "start": 153704798
        }
      ],
      "hgvs": [
        "NC_000004.12:g.153704799C>A",
        "CM000666.2:g.153704799C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 154625951,
          "referenceAllele": "C",
          "start": 154625950
        }
      ],
      "hgvs": [
        "NC_000004.11:g.154625951C>A",
        "CM000666.1:g.154625951C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 154845401,
          "referenceAllele": "C",
          "start": 154845400
        }
      ],
      "hgvs": [
        "NC_000004.10:g.154845401C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25511,
          "referenceAllele": "C",
          "start": 25510
        }
      ],
      "hgvs": [
        "NG_016229.1:g.25511C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2345,
          "referenceAllele": "C",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "ENST00000643501.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496208.2:p.Pro631His",
        "hgvsWellDefined": "ENSP00000496208.2:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2438,
          "referenceAllele": "C",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "ENST00000646219.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496676.2:p.Pro631His",
        "hgvsWellDefined": "ENSP00000496676.2:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2330,
          "referenceAllele": "C",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "ENST00000646900.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493968.2:p.Pro631His",
        "hgvsWellDefined": "ENSP00000493968.2:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "ENST00000642580.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495339.1:p.Pro631His",
        "hgvsWellDefined": "ENSP00000495339.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2135,
          "referenceAllele": "C",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "ENST00000642700.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494425.1:p.Pro631His",
        "hgvsWellDefined": "ENSP00000494425.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642700.2:c.1892C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001318789.2:c.1892C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494425.1:p.Pro631His"
          },
          "RefSeq": {
            "hgvs": "NP_001305718.1:p.Pro631His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "C",
          "start": 221,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "ENST00000643087.1:c.222-52C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494668.1:n.222-52C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3300,
          "referenceAllele": "C",
          "start": 3299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "ENST00000260010.6:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260010.6:p.Pro631His",
        "hgvsWellDefined": "ENSP00000260010.6:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069874629",
      "coordinates": [
        {
          "allele": "A",
          "end": 2111,
          "referenceAllele": "C",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_003264.3:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003255.2:p.Pro631His",
        "hgvsWellDefined": "NP_003255.2:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2192,
          "referenceAllele": "C",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_005263193.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263250.1:p.Pro631His",
        "hgvsWellDefined": "XP_005263250.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2137,
          "referenceAllele": "C",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_005263194.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263251.1:p.Pro631His",
        "hgvsWellDefined": "XP_005263251.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2082,
          "referenceAllele": "C",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_005263195.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263252.1:p.Pro631His",
        "hgvsWellDefined": "XP_005263252.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2124,
          "referenceAllele": "C",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_005263196.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263253.1:p.Pro631His",
        "hgvsWellDefined": "XP_005263253.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2100,
          "referenceAllele": "C",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_005263197.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263254.1:p.Pro631His",
        "hgvsWellDefined": "XP_005263254.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2059,
          "referenceAllele": "C",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_011532215.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530517.1:p.Pro631His",
        "hgvsWellDefined": "XP_011530517.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2007,
          "referenceAllele": "C",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_011532216.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530518.1:p.Pro631His",
        "hgvsWellDefined": "XP_011530518.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2373,
          "referenceAllele": "C",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318787.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305716.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305716.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2163,
          "referenceAllele": "C",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318789.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305718.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305718.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2140,
          "referenceAllele": "C",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318790.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305719.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305719.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2129,
          "referenceAllele": "C",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318791.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305720.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305720.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2125,
          "referenceAllele": "C",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318793.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305722.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305722.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2104,
          "referenceAllele": "C",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318795.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305724.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305724.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2089,
          "referenceAllele": "C",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318796.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305725.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305725.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069874629",
      "coordinates": [
        {
          "allele": "A",
          "end": 2148,
          "referenceAllele": "C",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_003264.4:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003255.2:p.Pro631His",
        "hgvsWellDefined": "NP_003255.2:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2073,
          "referenceAllele": "C",
          "start": 2072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_011532215.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530517.1:p.Pro631His",
        "hgvsWellDefined": "XP_011530517.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_011532216.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530518.1:p.Pro631His",
        "hgvsWellDefined": "XP_011530518.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2619,
          "referenceAllele": "C",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_017008573.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864062.1:p.Pro631His",
        "hgvsWellDefined": "XP_016864062.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "C",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_017008574.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864063.1:p.Pro631His",
        "hgvsWellDefined": "XP_016864063.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2345,
          "referenceAllele": "C",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_017008575.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864064.1:p.Pro631His",
        "hgvsWellDefined": "XP_016864064.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2919,
          "referenceAllele": "C",
          "start": 2918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "XM_017008576.1:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864065.1:p.Pro631His",
        "hgvsWellDefined": "XP_016864065.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2345,
          "referenceAllele": "C",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318787.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305716.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305716.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684600"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2135,
          "referenceAllele": "C",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318789.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305718.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305718.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684602",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642700.2:c.1892C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001318789.2:c.1892C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494425.1:p.Pro631His"
          },
          "RefSeq": {
            "hgvs": "NP_001305718.1:p.Pro631His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "referenceAllele": "C",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318790.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305719.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305719.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2101,
          "referenceAllele": "C",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318791.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305720.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305720.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "C",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318793.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305722.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305722.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318795.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305724.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305724.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2061,
          "referenceAllele": "C",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_001318796.2:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305725.1:p.Pro631His",
        "hgvsWellDefined": "NP_001305725.1:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684608"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069874629",
      "coordinates": [
        {
          "allele": "A",
          "end": 2120,
          "referenceAllele": "C",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011848",
      "geneNCBI_id": 7097,
      "geneSymbol": "TLR2",
      "hgvs": [
        "NM_003264.5:c.1892C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003255.2:p.Pro631His",
        "hgvsWellDefined": "NP_003255.2:p.Pro631His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695770"
    }
  ],
  "type": "nucleotide"
}