{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040695",
  "communityStandardTitle": [
    "NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357037[alleleid]",
        "alleleId": 357037,
        "preferredName": "NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371216",
        "RCV": [
          "RCV000411684",
          "RCV000778965",
          "RCV001383403",
          "RCV003114525"
        ],
        "variationId": 371216
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209803097G>A?assembly=hg19",
        "id": "chr1:g.209803097G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209629752G>A?assembly=hg38",
        "id": "chr1:g.209629752G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517096",
        "rs": 1057517096
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-209803097-G-A?dataset=gnomad_r2_1",
        "id": "1-209803097-G-A",
        "variant": "1:209803097 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-209629752-G-A?dataset=gnomad_r4",
        "id": "1-209629752-G-A",
        "variant": "1:209629752 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209629752,
          "referenceAllele": "G",
          "start": 209629751
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209629752G>A",
        "CM000663.2:g.209629752G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209803097,
          "referenceAllele": "G",
          "start": 209803096
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209803097G>A",
        "CM000663.1:g.209803097G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 207869720,
          "referenceAllele": "G",
          "start": 207869719
        }
      ],
      "hgvs": [
        "NC_000001.9:g.207869720G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27724,
          "referenceAllele": "C",
          "start": 27723
        }
      ],
      "hgvs": [
        "NG_007116.1:g.27724C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000490"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1211,
          "referenceAllele": "C",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.9:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Gln373Ter",
        "hgvsWellDefined": "ENSP00000348384.3:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.1117C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.1117C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Gln373Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Gln373Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.8:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Gln373Ter",
        "hgvsWellDefined": "ENSP00000348384.3:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1235,
          "referenceAllele": "C",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000367030.7:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355997.3:p.Gln373Ter",
        "hgvsWellDefined": "ENSP00000355997.3:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "referenceAllele": "C",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000391911.5:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375778.1:p.Gln373Ter",
        "hgvsWellDefined": "ENSP00000375778.1:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645463649",
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.2:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Gln373Ter",
        "hgvsWellDefined": "NP_000219.2:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006291"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825315282",
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "referenceAllele": "C",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.1:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Gln373Ter",
        "hgvsWellDefined": "NP_001017402.1:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915967674",
      "coordinates": [
        {
          "allele": "T",
          "end": 1235,
          "referenceAllele": "C",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001127641.1:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121113.1:p.Gln373Ter",
        "hgvsWellDefined": "NP_001121113.1:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.3:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Gln373Ter",
        "hgvsWellDefined": "XP_005273181.1:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.4:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Gln373Ter",
        "hgvsWellDefined": "XP_005273181.1:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_017001272.2:c.925C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856761.1:p.Gln309Ter",
        "hgvsWellDefined": "XP_016856761.1:p.Gln309_Lys1108delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645463649",
      "coordinates": [
        {
          "allele": "T",
          "end": 1211,
          "referenceAllele": "C",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.3:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Gln373Ter",
        "hgvsWellDefined": "NP_000219.2:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.1117C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.1117C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Gln373Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Gln373Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825315282",
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.2:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Gln373Ter",
        "hgvsWellDefined": "NP_001017402.1:p.Gln373_Lys1172delinsGluThrCysIleSerCysGluCysAspProAspGlyAlaValProGlyAlaProCysAspProValThrGlyGlnCysValCysLysGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711378"
    }
  ],
  "type": "nucleotide"
}