{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8051283",
  "communityStandardTitle": [
    "NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2109644[alleleid]",
        "alleleId": 2109644,
        "preferredName": "NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2058236",
        "RCV": [
          "RCV002942228",
          "RCV004067158"
        ],
        "variationId": 2058236
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-50733789-T-A",
        "id": "16-50733789-T-A",
        "variant": "16:50733789 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50733789T>A?assembly=hg19",
        "id": "chr16:g.50733789T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50699878T>A?assembly=hg38",
        "id": "chr16:g.50699878T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148753593",
        "rs": 148753593
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50733789-T-A?dataset=gnomad_r2_1",
        "id": "16-50733789-T-A",
        "variant": "16:50733789 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50699878-T-A?dataset=gnomad_r3",
        "id": "16-50699878-T-A",
        "variant": "16:50699878 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50699878-T-A?dataset=gnomad_r4",
        "id": "16-50699878-T-A",
        "variant": "16:50699878 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 50699878,
          "referenceAllele": "T",
          "start": 50699877
        }
      ],
      "hgvs": [
        "NC_000016.10:g.50699878T>A",
        "CM000678.2:g.50699878T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 50733789,
          "referenceAllele": "T",
          "start": 50733788
        }
      ],
      "hgvs": [
        "NC_000016.9:g.50733789T>A",
        "CM000678.1:g.50733789T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 49291290,
          "referenceAllele": "T",
          "start": 49291289
        }
      ],
      "hgvs": [
        "NC_000016.8:g.49291290T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7740,
          "referenceAllele": "T",
          "start": 7739
        }
      ],
      "hgvs": [
        "NG_007508.1:g.7740T>A",
        "LRG_177:g.7740T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000628"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "T",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.2:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:p.Leu128Gln",
        "hgvsWellDefined": "ENSP00000493088.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906395"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "T",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.2:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:p.Leu128Gln",
        "hgvsWellDefined": "ENSP00000496533.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "T",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.1:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:p.Leu128Gln",
        "hgvsWellDefined": "ENSP00000493088.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 466,
          "referenceAllele": "T",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.1:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:p.Leu128Gln",
        "hgvsWellDefined": "ENSP00000496533.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "referenceAllele": "T",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000647318.2:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495993.1:p.Leu128Gln",
        "hgvsWellDefined": "ENSP00000495993.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769349",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.383T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.383T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Leu128Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Leu128Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "referenceAllele": "T",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000300589.6:c.464T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300589.2:p.Leu155Gln",
        "hgvsWellDefined": "ENSP00000300589.2:p.Leu155Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "T",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000526417.6:n.451T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1291,
          "referenceAllele": "T",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000527070.5:c.*1079T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435149.1:n.*1079T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "referenceAllele": "T",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000531674.1:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431681.1:p.Leu128Gln",
        "hgvsWellDefined": "ENSP00000431681.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 568,
          "referenceAllele": "T",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000532206.1:n.568T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826835282",
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "T",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.1:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:p.Leu128Gln",
        "hgvsWellDefined": "NP_001280486.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580450741",
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "referenceAllele": "T",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.2:c.464T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Leu155Gln",
        "hgvsWellDefined": "NP_071445.1:p.Leu155Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.2:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:p.Leu128Gln",
        "hgvsWellDefined": "XP_005256141.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.2:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:p.Leu128Gln",
        "hgvsWellDefined": "XP_006721305.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721243.2:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721306.1:p.Leu128Gln",
        "hgvsWellDefined": "XP_006721306.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13,
          "referenceAllele": "T",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523257.1:c.-114T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521559.1:n.-114T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70,
          "endIntronDirection": "+",
          "endIntronOffset": 6216,
          "referenceAllele": "T",
          "start": 70,
          "startIntronDirection": "+",
          "startIntronOffset": 6215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523258.1:c.-38+6216T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521560.1:n.-38+6216T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090397"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "T",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.1:c.-97T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:n.-97T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523260.1:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521562.1:p.Leu128Gln",
        "hgvsWellDefined": "XP_011521562.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523261.1:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521563.1:p.Leu128Gln",
        "hgvsWellDefined": "XP_011521563.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429725.2:n.473T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429726.2:n.473T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 473,
          "referenceAllele": "T",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_933387.1:n.473T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.4:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:p.Leu128Gln",
        "hgvsWellDefined": "XP_005256141.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.4:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:p.Leu128Gln",
        "hgvsWellDefined": "XP_006721305.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721243.4:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721306.1:p.Leu128Gln",
        "hgvsWellDefined": "XP_006721306.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "referenceAllele": "T",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.2:c.-97T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:n.-97T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523260.3:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521562.1:p.Leu128Gln",
        "hgvsWellDefined": "XP_011521562.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523261.2:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521563.1:p.Leu128Gln",
        "hgvsWellDefined": "XP_011521563.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76,
          "endIntronDirection": "+",
          "endIntronOffset": 6216,
          "referenceAllele": "T",
          "start": 76,
          "startIntronDirection": "+",
          "startIntronOffset": 6215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023536.1:c.-127+6216T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879025.1:n.-127+6216T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76,
          "endIntronDirection": "+",
          "endIntronOffset": 6216,
          "referenceAllele": "T",
          "start": 76,
          "startIntronDirection": "+",
          "startIntronOffset": 6215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023537.1:c.-21+6216T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879026.1:n.-21+6216T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429725.3:n.426T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429726.3:n.426T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "T",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_933387.2:n.426T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826835282",
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "referenceAllele": "T",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.2:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:p.Leu128Gln",
        "hgvsWellDefined": "NP_001280486.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828432606",
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "referenceAllele": "T",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001370466.1:c.383T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357395.1:p.Leu128Gln",
        "hgvsWellDefined": "NP_001357395.1:p.Leu128Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.383T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.383T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Leu128Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Leu128Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580450741",
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "T",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.3:c.464T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Leu155Gln",
        "hgvsWellDefined": "NP_071445.1:p.Leu155Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "referenceAllele": "T",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NR_163434.1:n.448T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705559"
    }
  ],
  "type": "nucleotide"
}