{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343689340",
  "communityStandardTitle": [
    "NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1679553[alleleid]",
        "alleleId": 1679553,
        "preferredName": "NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1687260",
        "RCV": [
          "RCV002250942"
        ],
        "variationId": 1687260
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183197690C>A?assembly=hg19",
        "id": "chr1:g.183197690C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.183228555C>A?assembly=hg38",
        "id": "chr1:g.183228555C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200783718",
        "rs": 200783718
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 183228555,
          "referenceAllele": "C",
          "start": 183228554
        }
      ],
      "hgvs": [
        "NC_000001.11:g.183228555C>A",
        "CM000663.2:g.183228555C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 183197690,
          "referenceAllele": "C",
          "start": 183197689
        }
      ],
      "hgvs": [
        "NC_000001.10:g.183197690C>A",
        "CM000663.1:g.183197690C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 181464313,
          "referenceAllele": "C",
          "start": 181464312
        }
      ],
      "hgvs": [
        "NC_000001.9:g.181464313C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47292,
          "referenceAllele": "C",
          "start": 47291
        }
      ],
      "hgvs": [
        "NG_007079.2:g.47292C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000459"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "C",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.5:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Cys550Ter",
        "hgvsWellDefined": "ENSP00000264144.4:p.Cys550_Gln1193delinsAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.1650C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.1650C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Cys550Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Cys550Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1715,
          "referenceAllele": "C",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.4:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Cys550Ter",
        "hgvsWellDefined": "ENSP00000264144.4:p.Cys550_Gln1193delinsAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1765,
          "referenceAllele": "C",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000493293.5:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432063.1:p.Cys550Ter",
        "hgvsWellDefined": "ENSP00000432063.1:p.Cys550_Met1111delinsAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829602045",
      "coordinates": [
        {
          "allele": "A",
          "end": 1964,
          "referenceAllele": "C",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.2:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Cys550Ter",
        "hgvsWellDefined": "NP_005553.2:p.Cys550_Gln1193delinsAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573271303",
      "coordinates": [
        {
          "allele": "A",
          "end": 1964,
          "referenceAllele": "C",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.2:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:p.Cys550Ter",
        "hgvsWellDefined": "NP_061486.2:p.Cys550_Met1111delinsAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "C",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "XM_017001273.2:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856762.1:p.Cys550Ter",
        "hgvsWellDefined": "XP_016856762.1:p.Cys550_Arg742delinsAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829602045",
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "C",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.3:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Cys550Ter",
        "hgvsWellDefined": "NP_005553.2:p.Cys550_Gln1193delinsAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetAspGlnProLeuSerValAspGluGluGlyLeuValLeuLeuGluGlnLysLeuSerArgAlaLysThrGlnIleAsnSerGlnLeuArgProMetMetSerGluLeuGluGluArgAlaArgGlnGlnArgGlyHisLeuHisLeuLeuGluThrSerIleAspGlyIleLeuAlaAspValLysAsnLeuGluAsnIleArgAspAsnLeuProProGlyCysTyrAsnThrGlnAlaLeuGluGlnGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.1650C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.1650C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Cys550Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Cys550Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573271303",
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "C",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_018891.3:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061486.2:p.Cys550Ter",
        "hgvsWellDefined": "NP_061486.2:p.Cys550_Met1111delinsAspGlnCysLysAlaGlyTyrPheGlyAspProLeuAlaProAsnProAlaAspLysCysArgAlaCysAsnCysAsnProMetGlySerGluProValGlyCysArgSerAspGlyThrCysValCysLysProGlyPheGlyGlyProAsnCysGluHisGlyAlaPheSerCysProAlaCysTyrAsnGlnValLysIleGlnMetAspGlnPheMetGlnGlnLeuGlnArgMetGluAlaLeuIleSerLysAlaGlnGlyGlyAspGlyValValProAspThrGluLeuGluGlyArgMetGlnGlnAlaGluGlnAlaLeuGlnAspIleLeuArgAspAlaGlnIleSerGluGlyAlaSerArgSerLeuGlyLeuGlnLeuAlaLysValArgSerGlnGluAsnSerTyrGlnSerArgLeuAspAspLeuLysMetThrValGluArgValArgAlaLeuGlySerGlnTyrGlnAsnArgValArgAspThrHisArgLeuIleThrGlnMetGlnLeuSerLeuAlaGluSerGluAlaSerLeuGlyAsnThrAsnIleProAlaSerAspHisTyrValGlyProAsnGlyPheLysSerLeuAlaGlnGluAlaThrArgLeuAlaGluSerHisValGluSerAlaSerAsnMetGluGlnLeuThrArgGluThrGluAspTyrSerLysGlnAlaLeuSerLeuValArgLysAlaLeuHisGluGlyValGlySerGlySerGlySerProAspGlyAlaValValGlnGlyLeuValGluLysLeuGluLysThrLysSerLeuAlaGlnGlnLeuThrArgGluAlaThrGlnAlaGluIleGluAlaAspArgSerTyrGlnHisSerLeuArgLeuLeuAspSerValSerArgLeuGlnGlyValSerAspGlnSerPheGlnValGluGluAlaLysArgIleLysGlnLysAlaAspSerLeuSerSerLeuValThrArgHisMetAspGluPheLysArgThrGlnLysAsnLeuGlyAsnTrpLysGluGluAlaGlnGlnLeuLeuGlnAsnGlyLysSerGlyArgGluLysSerAspGlnLeuLeuSerArgAlaAsnLeuAlaLysSerArgAlaGlnGluAlaLeuSerMetGlyAsnAlaThrPheTyrGluValGluSerIleLeuLysAsnLeuArgGluPheAspLeuGlnValAspAsnArgLysAlaGluAlaGluGluAlaMetLysArgLeuSerTyrIleSerGlnLysValSerAspAlaSerAspLysThrGlnGlnAlaGluArgAlaLeuGlySerAlaAlaAlaAspAlaGlnArgAlaLysAsnGlyAlaGlyGluAlaLeuGluIleSerSerGluIleGluGlnGluIleGlySerLeuAsnLeuGluAlaAsnValThrAlaAspGlyAlaLeuAlaMetGluLysGlyLeuAlaSerLeuLysSerGluMetArgGluValGluGlyGluLeuGluArgLysGluLeuGluPheAspThrAsnMetAspAlaValGlnMetValIleThrGluAlaGlnLysValAspThrArgAlaLysAsnAlaGlyValThrIleGlnAspThrLeuAsnThrLeuAspGlyLeuLeuHisLeuMetGlyMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698092"
    }
  ],
  "type": "nucleotide"
}