{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127322",
  "communityStandardTitle": [
    "NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32684[alleleid]",
        "alleleId": 32684,
        "preferredName": "NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17645",
        "RCV": [
          "RCV001352741",
          "RCV001851939",
          "RCV002279920"
        ],
        "variationId": 17645
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.105794469G>A?assembly=hg19",
        "id": "chr10:g.105794469G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.104034711G>A?assembly=hg38",
        "id": "chr10:g.104034711G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912769",
        "rs": 121912769
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-105794469-G-A?dataset=gnomad_r2_1",
        "id": "10-105794469-G-A",
        "variant": "10:105794469 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-104034711-G-A?dataset=gnomad_r3",
        "id": "10-104034711-G-A",
        "variant": "10:104034711 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-104034711-G-A?dataset=gnomad_r4",
        "id": "10-104034711-G-A",
        "variant": "10:104034711 G / A"
      }
    ]
  },
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    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 104034711,
          "referenceAllele": "G",
          "start": 104034710
        }
      ],
      "hgvs": [
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        "CM000672.2:g.104034711G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 105794469,
          "referenceAllele": "G",
          "start": 105794468
        }
      ],
      "hgvs": [
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        "CM000672.1:g.105794469G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 105784459,
          "referenceAllele": "G",
          "start": 105784458
        }
      ],
      "hgvs": [
        "NC_000010.9:g.105784459G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56170,
          "referenceAllele": "C",
          "start": 56169
        }
      ],
      "hgvs": [
        "NG_007069.1:g.56170C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000449"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3430,
          "referenceAllele": "C",
          "start": 3429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
        "ENST00000369733.8:c.3430C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000358748.3:p.Arg1144_Pro1415delinsGlyProProGlyValSerGlyAlaLeuAlaThrTyrAlaAlaGluAsnSerAspSerPheArgSerGluLeuIleSerTyrLeuThrSerProAspValArgSerPheIleValGlyProProGlyProProGlyProGlnGlyProProGlyAspSerArgLeuLeuSerThrAspAlaSerHisSerArgGlySerSerSerSerSerHisSerSerSerValArgArgGlySerSerTyrSerSerSerMetSerThrGlyGlyGlyGlyAlaGlySerLeuGlyAlaGlyGlyAlaPheGlyGluAlaAlaGlyAspArgGlyProTyrGlyThrAspIleGlyProGlyGlyGlyTyrGlyAlaAlaAlaGluGlyGlyMetTyrAlaGlyAsnGlyGlyLeuLeuGlyAlaAspPheAlaGlyAspLeuAspTyrAsnGluLeuAlaValArgValSerGluSerMetGlnArgGlnGlyLeuLeuGlnGlyMetAlaTyrThrValGlnGlyProProGlyGlnProGlyProGlnGlyProProGlyIleSerLysValPheSerAlaTyrSerAsnValThrAlaAspLeuMetAspPhePheGlnThrTyrGlyAlaIleGlnGlyProProGlyGlnLysGlyGluMetGlyThrProGlyProLysGlyAspArgGlyProAlaGlyProProGlyHisProGlyProProGlyProArgGlyHisLysGlyGluLysGlyAspLysGlyAspGlnValTyrAlaGlyArgArgArgArgArgSerIleAlaValLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3845,
          "referenceAllele": "C",
          "start": 3844
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      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000497653.1:p.Arg1226_Pro1497delinsGlyProProGlyValSerGlyAlaLeuAlaThrTyrAlaAlaGluAsnSerAspSerPheArgSerGluLeuIleSerTyrLeuThrSerProAspValArgSerPheIleValGlyProProGlyProProGlyProGlnGlyProProGlyAspSerArgLeuLeuSerThrAspAlaSerHisSerArgGlySerSerSerSerSerHisSerSerSerValArgArgGlySerSerTyrSerSerSerMetSerThrGlyGlyGlyGlyAlaGlySerLeuGlyAlaGlyGlyAlaPheGlyGluAlaAlaGlyAspArgGlyProTyrGlyThrAspIleGlyProGlyGlyGlyTyrGlyAlaAlaAlaGluGlyGlyMetTyrAlaGlyAsnGlyGlyLeuLeuGlyAlaAspPheAlaGlyAspLeuAspTyrAsnGluLeuAlaValArgValSerGluSerMetGlnArgGlnGlyLeuLeuGlnGlyMetAlaTyrThrValGlnGlyProProGlyGlnProGlyProGlnGlyProProGlyIleSerLysValPheSerAlaTyrSerAsnValThrAlaAspLeuMetAspPhePheGlnThrTyrGlyAlaIleGlnGlyProProGlyGlnLysGlyGluMetGlyThrProGlyProLysGlyAspArgGlyProAlaGlyProProGlyHisProGlyProProGlyProArgGlyHisLysGlyGluLysGlyAspLysGlyAspGlnValTyrAlaGlyArgArgArgArgArgSerIleAlaValLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769775",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648076.2:c.3676C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000494.4:c.3676C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497653.1:p.Arg1226Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000485.3:p.Arg1226Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3967,
          "referenceAllele": "C",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340937.5:p.Arg1226Ter",
        "hgvsWellDefined": "ENSP00000340937.5:p.Arg1226_Pro1497delinsGlyProProGlyValSerGlyAlaLeuAlaThrTyrAlaAlaGluAsnSerAspSerPheArgSerGluLeuIleSerTyrLeuThrSerProAspValArgSerPheIleValGlyProProGlyProProGlyProGlnGlyProProGlyAspSerArgLeuLeuSerThrAspAlaSerHisSerArgGlySerSerSerSerSerHisSerSerSerValArgArgGlySerSerTyrSerSerSerMetSerThrGlyGlyGlyGlyAlaGlySerLeuGlyAlaGlyGlyAlaPheGlyGluAlaAlaGlyAspArgGlyProTyrGlyThrAspIleGlyProGlyGlyGlyTyrGlyAlaAlaAlaGluGlyGlyMetTyrAlaGlyAsnGlyGlyLeuLeuGlyAlaAspPheAlaGlyAspLeuAspTyrAsnGluLeuAlaValArgValSerGluSerMetGlnArgGlnGlyLeuLeuGlnGlyMetAlaTyrThrValGlnGlyProProGlyGlnProGlyProGlnGlyProProGlyIleSerLysValPheSerAlaTyrSerAsnValThrAlaAspLeuMetAspPhePheGlnThrTyrGlyAlaIleGlnGlyProProGlyGlnLysGlyGluMetGlyThrProGlyProLysGlyAspArgGlyProAlaGlyProProGlyHisProGlyProProGlyProArgGlyHisLysGlyGluLysGlyAspLysGlyAspGlnValTyrAlaGlyArgArgArgArgArgSerIleAlaValLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3721,
          "referenceAllele": "C",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
        "ENST00000369733.7:c.3430C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000358748.3:p.Arg1144_Pro1415delinsGlyProProGlyValSerGlyAlaLeuAlaThrTyrAlaAlaGluAsnSerAspSerPheArgSerGluLeuIleSerTyrLeuThrSerProAspValArgSerPheIleValGlyProProGlyProProGlyProGlnGlyProProGlyAspSerArgLeuLeuSerThrAspAlaSerHisSerArgGlySerSerSerSerSerHisSerSerSerValArgArgGlySerSerTyrSerSerSerMetSerThrGlyGlyGlyGlyAlaGlySerLeuGlyAlaGlyGlyAlaPheGlyGluAlaAlaGlyAspArgGlyProTyrGlyThrAspIleGlyProGlyGlyGlyTyrGlyAlaAlaAlaGluGlyGlyMetTyrAlaGlyAsnGlyGlyLeuLeuGlyAlaAspPheAlaGlyAspLeuAspTyrAsnGluLeuAlaValArgValSerGluSerMetGlnArgGlnGlyLeuLeuGlnGlyMetAlaTyrThrValGlnGlyProProGlyGlnProGlyProGlnGlyProProGlyIleSerLysValPheSerAlaTyrSerAsnValThrAlaAspLeuMetAspPhePheGlnThrTyrGlyAlaIleGlnGlyProProGlyGlnLysGlyGluMetGlyThrProGlyProLysGlyAspArgGlyProAlaGlyProProGlyHisProGlyProProGlyProArgGlyHisLysGlyGluLysGlyAspLysGlyAspGlnValTyrAlaGlyArgArgArgArgArgSerIleAlaValLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127323",
      "coordinates": [
        {
          "allele": "T",
          "end": 3845,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
        "NM_000494.3:c.3676C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000485.3:p.Arg1226Ter",
        "hgvsWellDefined": "NP_000485.3:p.Arg1226_Pro1497delinsGlyProProGlyValSerGlyAlaLeuAlaThrTyrAlaAlaGluAsnSerAspSerPheArgSerGluLeuIleSerTyrLeuThrSerProAspValArgSerPheIleValGlyProProGlyProProGlyProGlnGlyProProGlyAspSerArgLeuLeuSerThrAspAlaSerHisSerArgGlySerSerSerSerSerHisSerSerSerValArgArgGlySerSerTyrSerSerSerMetSerThrGlyGlyGlyGlyAlaGlySerLeuGlyAlaGlyGlyAlaPheGlyGluAlaAlaGlyAspArgGlyProTyrGlyThrAspIleGlyProGlyGlyGlyTyrGlyAlaAlaAlaGluGlyGlyMetTyrAlaGlyAsnGlyGlyLeuLeuGlyAlaAspPheAlaGlyAspLeuAspTyrAsnGluLeuAlaValArgValSerGluSerMetGlnArgGlnGlyLeuLeuGlnGlyMetAlaTyrThrValGlnGlyProProGlyGlnProGlyProGlnGlyProProGlyIleSerLysValPheSerAlaTyrSerAsnValThrAlaAspLeuMetAspPhePheGlnThrTyrGlyAlaIleGlnGlyProProGlyGlnLysGlyGluMetGlyThrProGlyProLysGlyAspArgGlyProAlaGlyProProGlyHisProGlyProProGlyProArgGlyHisLysGlyGluLysGlyAspLysGlyAspGlnValTyrAlaGlyArgArgArgArgArgSerIleAlaValLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA127323",
      "coordinates": [
        {
          "allele": "T",
          "end": 3845,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002194",
      "geneNCBI_id": 1308,
      "geneSymbol": "COL17A1",
      "hgvs": [
        "NM_000494.4:c.3676C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000485.3:p.Arg1226Ter",
        "hgvsWellDefined": "NP_000485.3:p.Arg1226_Pro1497delinsGlyProProGlyValSerGlyAlaLeuAlaThrTyrAlaAlaGluAsnSerAspSerPheArgSerGluLeuIleSerTyrLeuThrSerProAspValArgSerPheIleValGlyProProGlyProProGlyProGlnGlyProProGlyAspSerArgLeuLeuSerThrAspAlaSerHisSerArgGlySerSerSerSerSerHisSerSerSerValArgArgGlySerSerTyrSerSerSerMetSerThrGlyGlyGlyGlyAlaGlySerLeuGlyAlaGlyGlyAlaPheGlyGluAlaAlaGlyAspArgGlyProTyrGlyThrAspIleGlyProGlyGlyGlyTyrGlyAlaAlaAlaGluGlyGlyMetTyrAlaGlyAsnGlyGlyLeuLeuGlyAlaAspPheAlaGlyAspLeuAspTyrAsnGluLeuAlaValArgValSerGluSerMetGlnArgGlnGlyLeuLeuGlnGlyMetAlaTyrThrValGlnGlyProProGlyGlnProGlyProGlnGlyProProGlyIleSerLysValPheSerAlaTyrSerAsnValThrAlaAspLeuMetAspPhePheGlnThrTyrGlyAlaIleGlnGlyProProGlyGlnLysGlyGluMetGlyThrProGlyProLysGlyAspArgGlyProAlaGlyProProGlyHisProGlyProProGlyProArgGlyHisLysGlyGluLysGlyAspLysGlyAspGlnValTyrAlaGlyArgArgArgArgArgSerIleAlaValLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648076.2:c.3676C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000494.4:c.3676C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497653.1:p.Arg1226Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000485.3:p.Arg1226Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}