{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042424",
  "communityStandardTitle": [
    "NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359399[alleleid]",
        "alleleId": 359399,
        "preferredName": "NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372921",
        "RCV": [
          "RCV000414289",
          "RCV000509138",
          "RCV002392939"
        ],
        "variationId": 372921
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189859787C>T?assembly=hg19",
        "id": "chr2:g.189859787C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.188995061C>T?assembly=hg38",
        "id": "chr2:g.188995061C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518075",
        "rs": 1057518075
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-188995061-C-T?dataset=gnomad_r4",
        "id": "2-188995061-C-T",
        "variant": "2:188995061 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 188995061,
          "referenceAllele": "C",
          "start": 188995060
        }
      ],
      "hgvs": [
        "NC_000002.12:g.188995061C>T",
        "CM000664.2:g.188995061C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 189859787,
          "referenceAllele": "C",
          "start": 189859786
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189859787C>T",
        "CM000664.1:g.189859787C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 189568032,
          "referenceAllele": "C",
          "start": 189568031
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189568032C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25689,
          "referenceAllele": "C",
          "start": 25688
        }
      ],
      "hgvs": [
        "NG_007404.1:g.25689C>T",
        "LRG_3:g.25689C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1489,
          "referenceAllele": "C",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000450867.2:c.1372C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415346.2:p.Arg458Ter",
        "hgvsWellDefined": "ENSP00000415346.2:p.Arg458_Leu1433delinsGlyProAlaGlyProAsnGlyIleProGlyGluLysGlyProAlaGlyGluArgGlyAlaProGlyProAlaGlyProArgGlyAlaAlaGlyGluProGlyArgAspGlyValProGlyGlyProGlyMetArgGlyMetProGlySerProGlyGlyProGlySerAspGlyLysProGlyProProGlySerGlnGlyGluSerGlyArgProGlyProProGlyProSerGlyProArgGlyGlnProGlyValMetGlyPheProGlyProLysGlyAsnAspGlyAlaProGlyLysAsnGlyGluArgGlyGlyProGlyGlyProGlyProGlnGlyProProGlyLysAsnGlyGluThrGlyProGlnGlyProProGlyProThrGlyProGlyGlyAspLysGlyAspThrGlyProProGlyProGlnGlyLeuGlnGlyLeuProGlyThrGlyGlyProProGlyGluAsnGlyLysProGlyGluProGlyProLysGlyAspAlaGlyAlaProGlyAlaProGlyGlyLysGlyAspAlaGlyAlaProGlyGluArgGlyProProGlyLeuAlaGlyAlaProGlyLeuArgGlyGlyAlaGlyProProGlyProGluGlyGlyLysGlyAlaAlaGlyProProGlyProProGlyAlaAlaGlyThrProGlyLeuGlnGlyMetProGlyGluArgGlyGlyLeuGlySerProGlyProLysGlyAspLysGlyGluProGlyGlyProGlyAlaAspGlyValProGlyLysAspGlyProArgGlyProThrGlyProIleGlyProProGlyProAlaGlyGlnProGlyAspLysGlyGluGlyGlyAlaProGlyLeuProGlyIleAlaGlyProArgGlySerProGlyGluArgGlyGluThrGlyProProGlyProAlaGlyPheProGlyAlaProGlyGlnAsnGlyGluProGlyGlyLysGlyGluArgGlyAlaProGlyGluLysGlyGluGlyGlyProProGlyValAlaGlyProProGlyGlySerGlyProAlaGlyProProGlyProGlnGlyValLysGlyGluArgGlySerProGlyGlyProGlyAlaAlaGlyPheProGlyAlaArgGlyLeuProGlyProProGlySerAsnGlyAsnProGlyProProGlyProSerGlySerProGlyLysAspGlyProProGlyProAlaGlyAsnThrGlyAlaProGlySerProGlyValSerGlyProLysGlyAspAlaGlyGlnProGlyGluLysGlySerProGlyAlaGlnGlyProProGlyAlaProGlyProLeuGlyIleAlaGlyIleThrGlyAlaArgGlyLeuAlaGlyProProGlyMetProGlyProArgGlySerProGlyProGlnGlyValLysGlyGluSerGlyLysProGlyAlaAsnGlyLeuSerGlyGluArgGlyProProGlyProGlnGlyLeuProGlyLeuAlaGlyThrAlaGlyGluProGlyArgAspGlyAsnProGlySerAspGlyLeuProGlyArgAspGlySerProGlyGlyLysGlyAspArgGlyGluAsnGlySerProGlyAlaProGlyAlaProGlyHisProGlyProProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluSerGlyProAlaGlyProAlaGlyAlaProGlyProAlaGlySerArgGlyAlaProGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluArgGlyAlaAlaGlyIleLysGlyHisArgGlyPheProGlyAsnProGlyAlaProGlySerProGlyProAlaGlyGlnGlnGlyAlaIleGlySerProGlyProAlaGlyProArgGlyProValGlyProSerGlyProProGlyLysAspGlyThrSerGlyHisProGlyProIleGlyProProGlyProArgGlyAsnArgGlyGluArgGlySerGluGlySerProGlyHisProGlyGlnProGlyProProGlyProProGlyAlaProGlyProCysCysGlyGlyValGlyAlaAlaAlaIleAlaGlyIleGlyGlyGluLysAlaGlyGlyPheAlaProTyrTyrGlyAspGluProMetAspPheLysIleAsnThrAspGluIleMetThrSerLeuLysSerValAsnGlyGlnIleGluSerLeuIleSerProAspGlySerArgLysAsnProAlaArgAsnCysArgAspLeuLysPheCysHisProGluLeuLysSerGlyGluTyrTrpValAspProAsnGlnGlyCysLysLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysIleSerAlaAsnProLeuAsnValProArgLysHisTrpTrpThrAspSerSerAlaGluLysLysHisValTrpPheGlyGluSerMetAspGlyGlyPheGlnPheSerTyrGlyAsnProGluLeuProGluAspValLeuAspValHisLeuAlaPheLeuArgLeuLeuSerSerArgAlaSerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrMetAspGlnAlaSerGlyAsnValLysLysAlaLeuLysLeuMetGlySerAsnGluGlyGluPheLysAlaGluGlyAsnSerLysPheThrTyrThrValLeuGluAspGlyCysThrLysHisThrGlyGluTrpSerLysThrValPheGluTyrArgThrArgLysAlaValArgLeuProIleValAspIleAlaProTyrAspIleGlyGlyProAspGlnGluPheGlyValAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.9:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.4:p.Arg491Ter",
        "hgvsWellDefined": "ENSP00000304408.4:p.Arg491_Leu1466delinsGlyProAlaGlyProAsnGlyIleProGlyGluLysGlyProAlaGlyGluArgGlyAlaProGlyProAlaGlyProArgGlyAlaAlaGlyGluProGlyArgAspGlyValProGlyGlyProGlyMetArgGlyMetProGlySerProGlyGlyProGlySerAspGlyLysProGlyProProGlySerGlnGlyGluSerGlyArgProGlyProProGlyProSerGlyProArgGlyGlnProGlyValMetGlyPheProGlyProLysGlyAsnAspGlyAlaProGlyLysAsnGlyGluArgGlyGlyProGlyGlyProGlyProGlnGlyProProGlyLysAsnGlyGluThrGlyProGlnGlyProProGlyProThrGlyProGlyGlyAspLysGlyAspThrGlyProProGlyProGlnGlyLeuGlnGlyLeuProGlyThrGlyGlyProProGlyGluAsnGlyLysProGlyGluProGlyProLysGlyAspAlaGlyAlaProGlyAlaProGlyGlyLysGlyAspAlaGlyAlaProGlyGluArgGlyProProGlyLeuAlaGlyAlaProGlyLeuArgGlyGlyAlaGlyProProGlyProGluGlyGlyLysGlyAlaAlaGlyProProGlyProProGlyAlaAlaGlyThrProGlyLeuGlnGlyMetProGlyGluArgGlyGlyLeuGlySerProGlyProLysGlyAspLysGlyGluProGlyGlyProGlyAlaAspGlyValProGlyLysAspGlyProArgGlyProThrGlyProIleGlyProProGlyProAlaGlyGlnProGlyAspLysGlyGluGlyGlyAlaProGlyLeuProGlyIleAlaGlyProArgGlySerProGlyGluArgGlyGluThrGlyProProGlyProAlaGlyPheProGlyAlaProGlyGlnAsnGlyGluProGlyGlyLysGlyGluArgGlyAlaProGlyGluLysGlyGluGlyGlyProProGlyValAlaGlyProProGlyGlySerGlyProAlaGlyProProGlyProGlnGlyValLysGlyGluArgGlySerProGlyGlyProGlyAlaAlaGlyPheProGlyAlaArgGlyLeuProGlyProProGlySerAsnGlyAsnProGlyProProGlyProSerGlySerProGlyLysAspGlyProProGlyProAlaGlyAsnThrGlyAlaProGlySerProGlyValSerGlyProLysGlyAspAlaGlyGlnProGlyGluLysGlySerProGlyAlaGlnGlyProProGlyAlaProGlyProLeuGlyIleAlaGlyIleThrGlyAlaArgGlyLeuAlaGlyProProGlyMetProGlyProArgGlySerProGlyProGlnGlyValLysGlyGluSerGlyLysProGlyAlaAsnGlyLeuSerGlyGluArgGlyProProGlyProGlnGlyLeuProGlyLeuAlaGlyThrAlaGlyGluProGlyArgAspGlyAsnProGlySerAspGlyLeuProGlyArgAspGlySerProGlyGlyLysGlyAspArgGlyGluAsnGlySerProGlyAlaProGlyAlaProGlyHisProGlyProProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluSerGlyProAlaGlyProAlaGlyAlaProGlyProAlaGlySerArgGlyAlaProGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluArgGlyAlaAlaGlyIleLysGlyHisArgGlyPheProGlyAsnProGlyAlaProGlySerProGlyProAlaGlyGlnGlnGlyAlaIleGlySerProGlyProAlaGlyProArgGlyProValGlyProSerGlyProProGlyLysAspGlyThrSerGlyHisProGlyProIleGlyProProGlyProArgGlyAsnArgGlyGluArgGlySerGluGlySerProGlyHisProGlyGlnProGlyProProGlyProProGlyAlaProGlyProCysCysGlyGlyValGlyAlaAlaAlaIleAlaGlyIleGlyGlyGluLysAlaGlyGlyPheAlaProTyrTyrGlyAspGluProMetAspPheLysIleAsnThrAspGluIleMetThrSerLeuLysSerValAsnGlyGlnIleGluSerLeuIleSerProAspGlySerArgLysAsnProAlaArgAsnCysArgAspLeuLysPheCysHisProGluLeuLysSerGlyGluTyrTrpValAspProAsnGlnGlyCysLysLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysIleSerAlaAsnProLeuAsnValProArgLysHisTrpTrpThrAspSerSerAlaGluLysLysHisValTrpPheGlyGluSerMetAspGlyGlyPheGlnPheSerTyrGlyAsnProGluLeuProGluAspValLeuAspValHisLeuAlaPheLeuArgLeuLeuSerSerArgAlaSerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrMetAspGlnAlaSerGlyAsnValLysLysAlaLeuLysLeuMetGlySerAsnGluGlyGluPheLysAlaGluGlyAsnSerLysPheThrTyrThrValLeuGluAspGlyCysThrLysHisThrGlyGluTrpSerLysThrValPheGluTyrArgThrArgLysAlaValArgLeuProIleValAspIleAlaProTyrAspIleGlyGlyProAspGlnGluPheGlyValAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.1471C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.1471C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Arg491Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Arg491Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000304636.7:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304408.3:p.Arg491Ter",
        "hgvsWellDefined": "ENSP00000304408.3:p.Arg491_Leu1466delinsGlyProAlaGlyProAsnGlyIleProGlyGluLysGlyProAlaGlyGluArgGlyAlaProGlyProAlaGlyProArgGlyAlaAlaGlyGluProGlyArgAspGlyValProGlyGlyProGlyMetArgGlyMetProGlySerProGlyGlyProGlySerAspGlyLysProGlyProProGlySerGlnGlyGluSerGlyArgProGlyProProGlyProSerGlyProArgGlyGlnProGlyValMetGlyPheProGlyProLysGlyAsnAspGlyAlaProGlyLysAsnGlyGluArgGlyGlyProGlyGlyProGlyProGlnGlyProProGlyLysAsnGlyGluThrGlyProGlnGlyProProGlyProThrGlyProGlyGlyAspLysGlyAspThrGlyProProGlyProGlnGlyLeuGlnGlyLeuProGlyThrGlyGlyProProGlyGluAsnGlyLysProGlyGluProGlyProLysGlyAspAlaGlyAlaProGlyAlaProGlyGlyLysGlyAspAlaGlyAlaProGlyGluArgGlyProProGlyLeuAlaGlyAlaProGlyLeuArgGlyGlyAlaGlyProProGlyProGluGlyGlyLysGlyAlaAlaGlyProProGlyProProGlyAlaAlaGlyThrProGlyLeuGlnGlyMetProGlyGluArgGlyGlyLeuGlySerProGlyProLysGlyAspLysGlyGluProGlyGlyProGlyAlaAspGlyValProGlyLysAspGlyProArgGlyProThrGlyProIleGlyProProGlyProAlaGlyGlnProGlyAspLysGlyGluGlyGlyAlaProGlyLeuProGlyIleAlaGlyProArgGlySerProGlyGluArgGlyGluThrGlyProProGlyProAlaGlyPheProGlyAlaProGlyGlnAsnGlyGluProGlyGlyLysGlyGluArgGlyAlaProGlyGluLysGlyGluGlyGlyProProGlyValAlaGlyProProGlyGlySerGlyProAlaGlyProProGlyProGlnGlyValLysGlyGluArgGlySerProGlyGlyProGlyAlaAlaGlyPheProGlyAlaArgGlyLeuProGlyProProGlySerAsnGlyAsnProGlyProProGlyProSerGlySerProGlyLysAspGlyProProGlyProAlaGlyAsnThrGlyAlaProGlySerProGlyValSerGlyProLysGlyAspAlaGlyGlnProGlyGluLysGlySerProGlyAlaGlnGlyProProGlyAlaProGlyProLeuGlyIleAlaGlyIleThrGlyAlaArgGlyLeuAlaGlyProProGlyMetProGlyProArgGlySerProGlyProGlnGlyValLysGlyGluSerGlyLysProGlyAlaAsnGlyLeuSerGlyGluArgGlyProProGlyProGlnGlyLeuProGlyLeuAlaGlyThrAlaGlyGluProGlyArgAspGlyAsnProGlySerAspGlyLeuProGlyArgAspGlySerProGlyGlyLysGlyAspArgGlyGluAsnGlySerProGlyAlaProGlyAlaProGlyHisProGlyProProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluSerGlyProAlaGlyProAlaGlyAlaProGlyProAlaGlySerArgGlyAlaProGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluArgGlyAlaAlaGlyIleLysGlyHisArgGlyPheProGlyAsnProGlyAlaProGlySerProGlyProAlaGlyGlnGlnGlyAlaIleGlySerProGlyProAlaGlyProArgGlyProValGlyProSerGlyProProGlyLysAspGlyThrSerGlyHisProGlyProIleGlyProProGlyProArgGlyAsnArgGlyGluArgGlySerGluGlySerProGlyHisProGlyGlnProGlyProProGlyProProGlyAlaProGlyProCysCysGlyGlyValGlyAlaAlaAlaIleAlaGlyIleGlyGlyGluLysAlaGlyGlyPheAlaProTyrTyrGlyAspGluProMetAspPheLysIleAsnThrAspGluIleMetThrSerLeuLysSerValAsnGlyGlnIleGluSerLeuIleSerProAspGlySerArgLysAsnProAlaArgAsnCysArgAspLeuLysPheCysHisProGluLeuLysSerGlyGluTyrTrpValAspProAsnGlnGlyCysLysLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysIleSerAlaAsnProLeuAsnValProArgLysHisTrpTrpThrAspSerSerAlaGluLysLysHisValTrpPheGlyGluSerMetAspGlyGlyPheGlnPheSerTyrGlyAsnProGluLeuProGluAspValLeuAspValHisLeuAlaPheLeuArgLeuLeuSerSerArgAlaSerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrMetAspGlnAlaSerGlyAsnValLysLysAlaLeuLysLeuMetGlySerAsnGluGlyGluPheLysAlaGluGlyAsnSerLysPheThrTyrThrValLeuGluAspGlyCysThrLysHisThrGlyGluTrpSerLysThrValPheGluTyrArgThrArgLysAlaValArgLeuProIleValAspIleAlaProTyrAspIleGlyGlyProAspGlnGluPheGlyValAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "ENST00000317840.9:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315243.6:p.Arg491Ter",
        "hgvsWellDefined": "ENSP00000315243.6:p.Arg491_Leu1163delinsGlyProAlaGlyProAsnGlyIleProGlyGluLysGlyProAlaGlyGluArgGlyAlaProGlyProAlaGlyProArgGlyAlaAlaGlyGluProGlyArgAspGlyValProGlyGlyProGlyMetArgGlyMetProGlySerProGlyGlyProGlySerAspGlyLysProGlyProProGlySerGlnGlyGluSerGlyArgProGlyProProGlyProSerGlyProArgGlyGlnProGlyValMetGlyPheProGlyProLysGlyAsnAspGlyAlaProGlyLysAsnGlyGluArgGlyGlyProGlyGlyProGlyProGlnGlyProProGlyLysAsnGlyGluThrGlyProGlnGlyProProGlyProThrGlyProGlyGlyAspLysGlyAspThrGlyProProGlyProGlnGlyLeuGlnGlyLeuProGlyThrGlyGlyProProGlyGluAsnGlyLysProGlyGluProGlyProLysGlyAspAlaGlyAlaProGlyAlaProGlyGlyLysGlyAspAlaGlyAlaProGlyGluArgGlyProProGlyLeuAlaGlyAlaProGlyLeuArgGlyGlyAlaGlyProProGlyProGluGlyGlyLysGlyAlaAlaGlyProProGlyProProGlyAlaAlaGlyThrProGlyLeuGlnGlyMetProGlyGluArgGlyGlyLeuGlySerProGlyProLysGlyAspLysGlyGluProGlyGlyProGlyAlaAspGlyValProGlyLysAspGlyProArgGlyProThrGlyProIleGlyProProGlyProAlaGlyGlnProGlyAspLysGlyGluGlyGlyAlaProGlyLeuProGlyIleAlaGlyProArgGlySerProGlyGluArgGlyGluThrGlyProProGlyProAlaGlyPheProGlyAlaProGlyGlnAsnGlyGluProGlyGlyLysGlyGluArgGlyAlaProGlyGluLysGlyGluGlyGlyProProGlyValAlaGlyProProGlyLysAspGlyThrSerGlyHisProGlyProIleGlyProProGlyProArgGlyAsnArgGlyGluArgGlySerGluGlySerProGlyHisProGlyGlnProGlyProProGlyProProGlyAlaProGlyProCysCysGlyGlyValGlyAlaAlaAlaIleAlaGlyIleGlyGlyGluLysAlaGlyGlyPheAlaProTyrTyrGlyAspGluProMetAspPheLysIleAsnThrAspGluIleMetThrSerLeuLysSerValAsnGlyGlnIleGluSerLeuIleSerProAspGlySerArgLysAsnProAlaArgAsnCysArgAspLeuLysPheCysHisProGluLeuLysSerGlyGluTyrTrpValAspProAsnGlnGlyCysLysLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysIleSerAlaAsnProLeuAsnValProArgLysHisTrpTrpThrAspSerSerAlaGluLysLysHisValTrpPheGlyGluSerMetAspGlyGlyPheGlnPheSerTyrGlyAsnProGluLeuProGluAspValLeuAspValHisLeuAlaPheLeuArgLeuLeuSerSerArgAlaSerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrMetAspGlnAlaSerGlyAsnValLysLysAlaLeuLysLeuMetGlySerAsnGluGlyGluPheLysAlaGluGlyAsnSerLysPheThrTyrThrValLeuGluAspGlyCysThrLysHisThrGlyGluTrpSerLysThrValPheGluTyrArgThrArgLysAlaValArgLeuProIleValAspIleAlaProTyrAspIleGlyGlyProAspGlnGluPheGlyValAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645418372",
      "coordinates": [
        {
          "allele": "T",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.3:c.1471C>T",
        "LRG_3t1:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.1:p.Arg491Ter",
        "hgvsWellDefined": "NP_000081.1:p.Arg491_Leu1466delinsGlyProAlaGlyProAsnGlyIleProGlyGluLysGlyProAlaGlyGluArgGlyAlaProGlyProAlaGlyProArgGlyAlaAlaGlyGluProGlyArgAspGlyValProGlyGlyProGlyMetArgGlyMetProGlySerProGlyGlyProGlySerAspGlyLysProGlyProProGlySerGlnGlyGluSerGlyArgProGlyProProGlyProSerGlyProArgGlyGlnProGlyValMetGlyPheProGlyProLysGlyAsnAspGlyAlaProGlyLysAsnGlyGluArgGlyGlyProGlyGlyProGlyProGlnGlyProProGlyLysAsnGlyGluThrGlyProGlnGlyProProGlyProThrGlyProGlyGlyAspLysGlyAspThrGlyProProGlyProGlnGlyLeuGlnGlyLeuProGlyThrGlyGlyProProGlyGluAsnGlyLysProGlyGluProGlyProLysGlyAspAlaGlyAlaProGlyAlaProGlyGlyLysGlyAspAlaGlyAlaProGlyGluArgGlyProProGlyLeuAlaGlyAlaProGlyLeuArgGlyGlyAlaGlyProProGlyProGluGlyGlyLysGlyAlaAlaGlyProProGlyProProGlyAlaAlaGlyThrProGlyLeuGlnGlyMetProGlyGluArgGlyGlyLeuGlySerProGlyProLysGlyAspLysGlyGluProGlyGlyProGlyAlaAspGlyValProGlyLysAspGlyProArgGlyProThrGlyProIleGlyProProGlyProAlaGlyGlnProGlyAspLysGlyGluGlyGlyAlaProGlyLeuProGlyIleAlaGlyProArgGlySerProGlyGluArgGlyGluThrGlyProProGlyProAlaGlyPheProGlyAlaProGlyGlnAsnGlyGluProGlyGlyLysGlyGluArgGlyAlaProGlyGluLysGlyGluGlyGlyProProGlyValAlaGlyProProGlyGlySerGlyProAlaGlyProProGlyProGlnGlyValLysGlyGluArgGlySerProGlyGlyProGlyAlaAlaGlyPheProGlyAlaArgGlyLeuProGlyProProGlySerAsnGlyAsnProGlyProProGlyProSerGlySerProGlyLysAspGlyProProGlyProAlaGlyAsnThrGlyAlaProGlySerProGlyValSerGlyProLysGlyAspAlaGlyGlnProGlyGluLysGlySerProGlyAlaGlnGlyProProGlyAlaProGlyProLeuGlyIleAlaGlyIleThrGlyAlaArgGlyLeuAlaGlyProProGlyMetProGlyProArgGlySerProGlyProGlnGlyValLysGlyGluSerGlyLysProGlyAlaAsnGlyLeuSerGlyGluArgGlyProProGlyProGlnGlyLeuProGlyLeuAlaGlyThrAlaGlyGluProGlyArgAspGlyAsnProGlySerAspGlyLeuProGlyArgAspGlySerProGlyGlyLysGlyAspArgGlyGluAsnGlySerProGlyAlaProGlyAlaProGlyHisProGlyProProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluSerGlyProAlaGlyProAlaGlyAlaProGlyProAlaGlySerArgGlyAlaProGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluArgGlyAlaAlaGlyIleLysGlyHisArgGlyPheProGlyAsnProGlyAlaProGlySerProGlyProAlaGlyGlnGlnGlyAlaIleGlySerProGlyProAlaGlyProArgGlyProValGlyProSerGlyProProGlyLysAspGlyThrSerGlyHisProGlyProIleGlyProProGlyProArgGlyAsnArgGlyGluArgGlySerGluGlySerProGlyHisProGlyGlnProGlyProProGlyProProGlyAlaProGlyProCysCysGlyGlyValGlyAlaAlaAlaIleAlaGlyIleGlyGlyGluLysAlaGlyGlyPheAlaProTyrTyrGlyAspGluProMetAspPheLysIleAsnThrAspGluIleMetThrSerLeuLysSerValAsnGlyGlnIleGluSerLeuIleSerProAspGlySerArgLysAsnProAlaArgAsnCysArgAspLeuLysPheCysHisProGluLeuLysSerGlyGluTyrTrpValAspProAsnGlnGlyCysLysLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysIleSerAlaAsnProLeuAsnValProArgLysHisTrpTrpThrAspSerSerAlaGluLysLysHisValTrpPheGlyGluSerMetAspGlyGlyPheGlnPheSerTyrGlyAsnProGluLeuProGluAspValLeuAspValGlnLeuAlaPheLeuArgLeuLeuSerSerArgAlaSerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrMetAspGlnAlaSerGlyAsnValLysLysAlaLeuLysLeuMetGlySerAsnGluGlyGluPheLysAlaGluGlyAsnSerLysPheThrTyrThrValLeuGluAspGlyCysThrLysHisThrGlyGluTrpSerLysThrValPheGluTyrArgThrArgLysAlaValArgLeuProIleValAspIleAlaProTyrAspIleGlyGlyProAspGlnGluPheGlyValAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573060655",
      "coordinates": [
        {
          "allele": "T",
          "end": 1588,
          "referenceAllele": "C",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
        "NM_000090.4:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000081.2:p.Arg491Ter",
        "hgvsWellDefined": "NP_000081.2:p.Arg491_Leu1466delinsGlyProAlaGlyProAsnGlyIleProGlyGluLysGlyProAlaGlyGluArgGlyAlaProGlyProAlaGlyProArgGlyAlaAlaGlyGluProGlyArgAspGlyValProGlyGlyProGlyMetArgGlyMetProGlySerProGlyGlyProGlySerAspGlyLysProGlyProProGlySerGlnGlyGluSerGlyArgProGlyProProGlyProSerGlyProArgGlyGlnProGlyValMetGlyPheProGlyProLysGlyAsnAspGlyAlaProGlyLysAsnGlyGluArgGlyGlyProGlyGlyProGlyProGlnGlyProProGlyLysAsnGlyGluThrGlyProGlnGlyProProGlyProThrGlyProGlyGlyAspLysGlyAspThrGlyProProGlyProGlnGlyLeuGlnGlyLeuProGlyThrGlyGlyProProGlyGluAsnGlyLysProGlyGluProGlyProLysGlyAspAlaGlyAlaProGlyAlaProGlyGlyLysGlyAspAlaGlyAlaProGlyGluArgGlyProProGlyLeuAlaGlyAlaProGlyLeuArgGlyGlyAlaGlyProProGlyProGluGlyGlyLysGlyAlaAlaGlyProProGlyProProGlyAlaAlaGlyThrProGlyLeuGlnGlyMetProGlyGluArgGlyGlyLeuGlySerProGlyProLysGlyAspLysGlyGluProGlyGlyProGlyAlaAspGlyValProGlyLysAspGlyProArgGlyProThrGlyProIleGlyProProGlyProAlaGlyGlnProGlyAspLysGlyGluGlyGlyAlaProGlyLeuProGlyIleAlaGlyProArgGlySerProGlyGluArgGlyGluThrGlyProProGlyProAlaGlyPheProGlyAlaProGlyGlnAsnGlyGluProGlyGlyLysGlyGluArgGlyAlaProGlyGluLysGlyGluGlyGlyProProGlyValAlaGlyProProGlyGlySerGlyProAlaGlyProProGlyProGlnGlyValLysGlyGluArgGlySerProGlyGlyProGlyAlaAlaGlyPheProGlyAlaArgGlyLeuProGlyProProGlySerAsnGlyAsnProGlyProProGlyProSerGlySerProGlyLysAspGlyProProGlyProAlaGlyAsnThrGlyAlaProGlySerProGlyValSerGlyProLysGlyAspAlaGlyGlnProGlyGluLysGlySerProGlyAlaGlnGlyProProGlyAlaProGlyProLeuGlyIleAlaGlyIleThrGlyAlaArgGlyLeuAlaGlyProProGlyMetProGlyProArgGlySerProGlyProGlnGlyValLysGlyGluSerGlyLysProGlyAlaAsnGlyLeuSerGlyGluArgGlyProProGlyProGlnGlyLeuProGlyLeuAlaGlyThrAlaGlyGluProGlyArgAspGlyAsnProGlySerAspGlyLeuProGlyArgAspGlySerProGlyGlyLysGlyAspArgGlyGluAsnGlySerProGlyAlaProGlyAlaProGlyHisProGlyProProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluSerGlyProAlaGlyProAlaGlyAlaProGlyProAlaGlySerArgGlyAlaProGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluArgGlyAlaAlaGlyIleLysGlyHisArgGlyPheProGlyAsnProGlyAlaProGlySerProGlyProAlaGlyGlnGlnGlyAlaIleGlySerProGlyProAlaGlyProArgGlyProValGlyProSerGlyProProGlyLysAspGlyThrSerGlyHisProGlyProIleGlyProProGlyProArgGlyAsnArgGlyGluArgGlySerGluGlySerProGlyHisProGlyGlnProGlyProProGlyProProGlyAlaProGlyProCysCysGlyGlyValGlyAlaAlaAlaIleAlaGlyIleGlyGlyGluLysAlaGlyGlyPheAlaProTyrTyrGlyAspGluProMetAspPheLysIleAsnThrAspGluIleMetThrSerLeuLysSerValAsnGlyGlnIleGluSerLeuIleSerProAspGlySerArgLysAsnProAlaArgAsnCysArgAspLeuLysPheCysHisProGluLeuLysSerGlyGluTyrTrpValAspProAsnGlnGlyCysLysLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysIleSerAlaAsnProLeuAsnValProArgLysHisTrpTrpThrAspSerSerAlaGluLysLysHisValTrpPheGlyGluSerMetAspGlyGlyPheGlnPheSerTyrGlyAsnProGluLeuProGluAspValLeuAspValHisLeuAlaPheLeuArgLeuLeuSerSerArgAlaSerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrMetAspGlnAlaSerGlyAsnValLysLysAlaLeuLysLeuMetGlySerAsnGluGlyGluPheLysAlaGluGlyAsnSerLysPheThrTyrThrValLeuGluAspGlyCysThrLysHisThrGlyGluTrpSerLysThrValPheGluTyrArgThrArgLysAlaValArgLeuProIleValAspIleAlaProTyrAspIleGlyGlyProAspGlnGluPheGlyValAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.1471C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.1471C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Arg491Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Arg491Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}