{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344591745",
  "communityStandardTitle": [
    "NM_000228.3(LAMB3):c.1204A>T (p.Lys402Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1783370[alleleid]",
        "alleleId": 1783370,
        "preferredName": "NM_000228.3(LAMB3):c.1204A>T (p.Lys402Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1725843",
        "RCV": [
          "RCV002309527"
        ],
        "variationId": 1725843
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209801464T>A?assembly=hg19",
        "id": "chr1:g.209801464T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.209628119T>A?assembly=hg38",
        "id": "chr1:g.209628119T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2464837989",
        "rs": 2464837989
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209628119,
          "referenceAllele": "T",
          "start": 209628118
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209628119T>A",
        "CM000663.2:g.209628119T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 209801464,
          "referenceAllele": "T",
          "start": 209801463
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209801464T>A",
        "CM000663.1:g.209801464T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 207868087,
          "referenceAllele": "T",
          "start": 207868086
        }
      ],
      "hgvs": [
        "NC_000001.9:g.207868087T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29357,
          "referenceAllele": "A",
          "start": 29356
        }
      ],
      "hgvs": [
        "NG_007116.1:g.29357A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000490"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "A",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.9:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Lys402Ter",
        "hgvsWellDefined": "ENSP00000348384.3:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.1204A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.1204A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Lys402Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Lys402Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "A",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.8:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Lys402Ter",
        "hgvsWellDefined": "ENSP00000348384.3:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "A",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000367030.7:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355997.3:p.Lys402Ter",
        "hgvsWellDefined": "ENSP00000355997.3:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "A",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000391911.5:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375778.1:p.Lys402Ter",
        "hgvsWellDefined": "ENSP00000375778.1:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094826",
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "A",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.2:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Lys402Ter",
        "hgvsWellDefined": "NP_000219.2:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006291"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825315323",
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "A",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.1:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Lys402Ter",
        "hgvsWellDefined": "NP_001017402.1:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580135166",
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "A",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001127641.1:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121113.1:p.Lys402Ter",
        "hgvsWellDefined": "NP_001121113.1:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "referenceAllele": "A",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.3:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Lys402Ter",
        "hgvsWellDefined": "XP_005273181.1:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1530,
          "referenceAllele": "A",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.4:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Lys402Ter",
        "hgvsWellDefined": "XP_005273181.1:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1148,
          "referenceAllele": "A",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_017001272.2:c.1012A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856761.1:p.Lys338Ter",
        "hgvsWellDefined": "XP_016856761.1:p.Lys338_Lys1108delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825094826",
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "A",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.3:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Lys402Ter",
        "hgvsWellDefined": "NP_000219.2:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.1204A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.1204A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Lys402Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Lys402Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825315323",
      "coordinates": [
        {
          "allele": "T",
          "end": 1634,
          "referenceAllele": "A",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.2:c.1204A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Lys402Ter",
        "hgvsWellDefined": "NP_001017402.1:p.Lys402_Lys1172delinsGluHisValGlnGlyGluArgCysAspLeuCysLysProGlyPheThrGlyLeuThrTyrAlaAsnProGlnGlyCysHisArgCysAspCysAsnIleLeuGlySerArgArgAspMetProCysAspGluGluSerGlyArgCysLeuCysLeuProAsnValValGlyProLysCysAspGlnCysAlaProTyrHisTrpLysLeuAlaSerGlyGlnGlyCysGluProCysAlaCysAspProHisAsnSerLeuSerProGlnCysAsnGlnPheThrGlyGlnCysProCysArgGluGlyPheGlyGlyLeuMetCysSerAlaAlaAlaIleArgGlnCysProAspArgThrTyrGlyAspValAlaThrGlyCysArgAlaCysAspCysAspPheArgGlyThrGluGlyProGlyCysAspLysAlaSerGlyArgCysLeuCysArgProGlyLeuThrGlyProArgCysAspGlnCysGlnArgGlyTyrCysAsnArgTyrProValCysValAlaCysHisProCysPheGlnThrTyrAspAlaAspLeuArgGluGlnAlaLeuArgPheGlyArgLeuArgAsnAlaThrAlaSerLeuTrpSerGlyProGlyLeuGluAspArgGlyLeuAlaSerArgIleLeuAspAlaLysSerLysIleGluGlnIleArgAlaValLeuSerSerProAlaValThrGluGlnGluValAlaGlnValAlaSerAlaIleLeuSerLeuArgArgThrLeuGlnGlyLeuGlnLeuAspLeuProLeuGluGluGluThrLeuSerLeuProArgAspLeuGluSerLeuAspArgSerPheAsnGlyLeuLeuThrMetTyrGlnArgLysArgGluGlnPheGluLysIleSerSerAlaAspProSerGlyAlaPheArgMetLeuSerThrAlaTyrGluGlnSerAlaGlnAlaAlaGlnGlnValSerAspSerSerArgLeuLeuAspGlnLeuArgAspSerArgArgGluAlaGluArgLeuValArgGlnAlaGlyGlyGlyGlyGlyThrGlySerProLysLeuValAlaLeuArgLeuGluMetSerSerLeuProAspLeuThrProThrPheAsnLysLeuCysGlyAsnSerArgGlnMetAlaCysThrProIleSerCysProGlyGluLeuCysProGlnAspAsnGlyThrAlaCysGlySerArgCysArgGlyValLeuProArgAlaGlyGlyAlaPheLeuMetAlaGlyGlnValAlaGluGlnLeuArgGlyPheAsnAlaGlnLeuGlnArgThrArgGlnMetIleArgAlaAlaGluGluSerAlaSerGlnIleGlnSerSerAlaGlnArgLeuGluThrGlnValSerAlaSerArgSerGlnMetGluGluAspValArgArgThrArgLeuLeuIleGlnGlnValArgAspPheLeuThrAspProAspThrAspAlaAlaThrIleGlnGluValSerGluAlaValLeuAlaLeuTrpLeuProThrAspSerAlaThrValLeuGlnLysMetAsnGluIleGlnAlaIleAlaAlaArgLeuProAsnValAspLeuValLeuSerGlnThrLysGlnAspIleAlaArgAlaArgArgLeuGlnAlaGluAlaGluGluAlaArgSerArgAlaHisAlaValGluGlyGlnValGluAspValValGlyAsnLeuArgGlnGlyThrValAlaLeuGlnGluAlaGlnAspThrMetGlnGlyThrSerArgSerLeuArgLeuIleGlnAspArgValAlaGluValGlnGlnValLeuArgProAlaGluLysLeuValThrSerMetThrLysGlnLeuGlyAspPheTrpThrArgMetGluGluLeuArgHisGlnAlaArgGlnGlnGlyAlaGluAlaValGlnAlaGlnGlnLeuAlaGluGlyAlaSerGluGlnAlaLeuSerAlaGlnGluGlyPheGluArgIleLysGlnLysTyrAlaGluLeuLysAspArgLeuGlyGlnSerSerMetLeuGlyGluGlnGlyAlaArgIleGlnSerValLysThrGluAlaGluGluLeuPheGlyGluThrMetGluMetMetAspArgMetLysAspMetGluLeuGluLeuLeuArgGlySerGlnAlaIleMetLeuArgSerAlaAspLeuThrGlyLeuGluLysArgValGluGlnIleArgAspHisIleAsnGlyArgValLeuTyrTyrAlaThrCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711378"
    }
  ],
  "type": "nucleotide"
}