{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA321918562",
  "communityStandardTitle": [
    "NM_001379500.1(COL18A1):c.1876C>T (p.Arg626Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=189382",
        "active": true,
        "id": "COSM189382"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3842057",
        "active": true,
        "id": "COSM3842057"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5834062",
        "active": true,
        "id": "COSM5834062"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=903641[alleleid]",
        "alleleId": 903641,
        "preferredName": "NM_001379500.1(COL18A1):c.1876C>T (p.Arg626Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/915432",
        "RCV": [
          "RCV001170051"
        ],
        "variationId": 915432
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.46907403C>T?assembly=hg19",
        "id": "chr21:g.46907403C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.45487489C>T?assembly=hg38",
        "id": "chr21:g.45487489C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753935209",
        "rs": 753935209
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-45487489-C-T?dataset=gnomad_r3",
        "id": "21-45487489-C-T",
        "variant": "21:45487489 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-45487489-C-T?dataset=gnomad_r4",
        "id": "21-45487489-C-T",
        "variant": "21:45487489 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 45487489,
          "referenceAllele": "C",
          "start": 45487488
        }
      ],
      "hgvs": [
        "NC_000021.9:g.45487489C>T",
        "CM000683.2:g.45487489C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 46907403,
          "referenceAllele": "C",
          "start": 46907402
        }
      ],
      "hgvs": [
        "NC_000021.8:g.46907403C>T",
        "CM000683.1:g.46907403C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "T",
          "end": 45731831,
          "referenceAllele": "C",
          "start": 45731830
        }
      ],
      "hgvs": [
        "NC_000021.7:g.45731831C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87307,
          "referenceAllele": "C",
          "start": 87306
        }
      ],
      "hgvs": [
        "NG_011903.1:g.87307C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002052"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2425,
          "referenceAllele": "C",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "ENST00000355480.10:c.2416C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347665.5:p.Arg806Ter",
        "hgvsWellDefined": "ENSP00000347665.5:p.Arg806_Lys1519delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "ENST00000651438.1:c.1876C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498485.1:p.Arg626Ter",
        "hgvsWellDefined": "ENSP00000498485.1:p.Arg626_Lys1339delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771668",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651438.1:c.1876C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001379500.1:c.1876C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498485.1:p.Arg626Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001366429.1:p.Arg626Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "C",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "ENST00000355480.9:c.2416C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347665.5:p.Arg806Ter",
        "hgvsWellDefined": "ENSP00000347665.5:p.Arg806_Lys1519delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3121,
          "referenceAllele": "C",
          "start": 3120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "ENST00000359759.8:c.3121C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352798.4:p.Arg1041Ter",
        "hgvsWellDefined": "ENSP00000352798.4:p.Arg1041_Lys1754delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1970,
          "referenceAllele": "C",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "ENST00000400337.6:c.1876C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383191.2:p.Arg626Ter",
        "hgvsWellDefined": "ENSP00000383191.2:p.Arg626_Lys1339delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764063",
      "coordinates": [
        {
          "allele": "T",
          "end": 2437,
          "referenceAllele": "C",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_030582.3:c.2416C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_085059.2:p.Arg806Ter",
        "hgvsWellDefined": "NP_085059.2:p.Arg806_Lys1516delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830167532",
      "coordinates": [
        {
          "allele": "T",
          "end": 3142,
          "referenceAllele": "C",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_130444.2:c.3121C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_569711.2:p.Arg1041Ter",
        "hgvsWellDefined": "NP_569711.2:p.Arg1041_Lys1751delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1970,
          "referenceAllele": "C",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_130445.3:c.1876C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_569712.2:p.Arg626Ter",
        "hgvsWellDefined": "NP_569712.2:p.Arg626_Lys1336delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040369"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139764063",
      "coordinates": [
        {
          "allele": "T",
          "end": 2425,
          "referenceAllele": "C",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_030582.4:c.2416C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_085059.2:p.Arg806Ter",
        "hgvsWellDefined": "NP_085059.2:p.Arg806_Lys1516delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830167532",
      "coordinates": [
        {
          "allele": "T",
          "end": 3130,
          "referenceAllele": "C",
          "start": 3129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_130444.3:c.3121C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_569711.2:p.Arg1041Ter",
        "hgvsWellDefined": "NP_569711.2:p.Arg1041_Lys1751delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_130445.4:c.1876C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_569712.2:p.Arg626Ter",
        "hgvsWellDefined": "NP_569712.2:p.Arg626_Lys1336delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828833574",
      "coordinates": [
        {
          "allele": "T",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002195",
      "geneNCBI_id": 80781,
      "geneSymbol": "COL18A1",
      "hgvs": [
        "NM_001379500.1:c.1876C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366429.1:p.Arg626Ter",
        "hgvsWellDefined": "NP_001366429.1:p.Arg626_Lys1339delinsSerAlaAspGlyProGlnGlyProProGlyLeuProGlyLeuLysGlyAspProGlyValProGlyLeuProGlyAlaLysGlyGluValGlyAlaAspGlyValProGlyPheProGlyLeuProGlyArgGluGlyIleAlaGlyProGlnGlyProLysGlyAspArgGlySerArgGlyGluLysGlyAspProGlyLysAspGlyValGlyGlnProGlyLeuProGlyProProGlyProProGlyProValValTyrValSerGluGlnAspGlySerValLeuSerValProGlyProGluGlyArgProGlyPheAlaGlyPheProGlyProAlaGlyProLysGlyAsnLeuGlySerLysGlyGluArgGlySerProGlyProLysGlyGluLysGlyGluProGlySerIlePheSerProAspGlyGlyAlaLeuGlyProAlaGlnLysGlyAlaLysGlyGluProGlyPheArgGlyProProGlyProTyrGlyArgProGlyTyrLysGlyGluIleGlyPheProGlyArgProGlyArgProGlyMetAsnGlyLeuLysGlyGluLysGlyGluProGlyAspAlaSerLeuGlyPheGlyMetArgGlyMetProGlyProProGlyProProGlyProProGlyProProGlyThrProValTyrAspSerAsnValPheAlaGluSerSerArgProGlyProProGlyLeuProGlyAsnGlnGlyProProGlyProLysGlyAlaLysGlyGluValGlyProProGlyProProGlyGlnPheProPheAspPheLeuGlnLeuGluAlaGluMetLysGlyGluLysGlyAspArgGlyAspAlaGlyGlnLysGlyGluArgGlyGluProGlyGlyGlyGlyPhePheGlySerSerLeuProGlyProProGlyProProGlyProProGlyProArgGlyTyrProGlyIleProGlyProLysGlyGluSerIleArgGlyGlnProGlyProProGlyProGlnGlyProProGlyIleGlyTyrGluGlyArgGlnGlyProProGlyProProGlyProProGlyProProSerPheProGlyProHisArgGlnThrIleSerValProGlyProProGlyProProGlyProProGlyProProGlyThrMetGlyAlaSerSerGlyValArgLeuTrpAlaThrArgGlnAlaMetLeuGlyGlnValHisGluValProGluGlyTrpLeuIlePheValAlaGluGlnGluGluLeuTyrValArgValGlnAsnGlyPheArgLysValGlnLeuGluAlaArgThrProLeuProArgGlyThrAspAsnGluValAlaAlaLeuGlnProProValValGlnLeuHisAspSerAsnProTyrProArgArgGluHisProHisProThrAlaArgProTrpArgAlaAspAspIleLeuAlaSerProProArgLeuProGluProGlnProTyrProGlyAlaProHisHisSerSerTyrValHisLeuArgProAlaArgProThrSerProProAlaHisSerHisArgAspPheGlnProValLeuHisLeuValAlaLeuAsnSerProLeuSerGlyGlyMetArgGlyIleArgGlyAlaAspPheGlnCysPheGlnGlnAlaArgAlaValGlyLeuAlaGlyThrPheArgAlaPheLeuSerSerArgLeuGlnAspLeuTyrSerIleValArgArgAlaAspArgAlaAlaValProIleValAsnLeuLysAspGluLeuLeuPheProSerTrpGluAlaLeuPheSerGlySerGluGlyProLeuLysProGlyAlaArgIlePheSerPheAspGlyLysAspValLeuArgHisProThrTrpProGlnLysSerValTrpHisGlySerAspProAsnGlyArgArgLeuThrGluSerTyrCysGluThrTrpArgThrGluAlaProSerAlaThrGlyGlnAlaSerSerLeuLeuGlyGlyArgLeuLeuGlyGlnSerAlaAlaSerCysHisHisAlaTyrIleValLeuCysIleGluAsnSerPheMetThrAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722006",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651438.1:c.1876C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001379500.1:c.1876C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498485.1:p.Arg626Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001366429.1:p.Arg626Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}