{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA281006",
  "communityStandardTitle": [
    "NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29403[alleleid]",
        "alleleId": 29403,
        "preferredName": "NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14364",
        "RCV": [
          "RCV000015438",
          "RCV000760317"
        ],
        "variationId": 14364
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-12018684-C-T",
        "id": "1-12018684-C-T",
        "variant": "1:12018684 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.12018684C>T?assembly=hg19",
        "id": "chr1:g.12018684C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.11958627C>T?assembly=hg38",
        "id": "chr1:g.11958627C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913550",
        "rs": 121913550
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-12018684-C-T?dataset=gnomad_r2_1",
        "id": "1-12018684-C-T",
        "variant": "1:12018684 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-11958627-C-T?dataset=gnomad_r4",
        "id": "1-11958627-C-T",
        "variant": "1:11958627 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 11958627,
          "referenceAllele": "C",
          "start": 11958626
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11958627C>T",
        "CM000663.2:g.11958627C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 12018684,
          "referenceAllele": "C",
          "start": 12018683
        }
      ],
      "hgvs": [
        "NC_000001.10:g.12018684C>T",
        "CM000663.1:g.12018684C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 11941271,
          "referenceAllele": "C",
          "start": 11941270
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11941271C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28939,
          "referenceAllele": "C",
          "start": 28938
        }
      ],
      "hgvs": [
        "NG_008159.1:g.28939C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000905"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "C",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000196061.5:c.955C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000196061.4:p.Arg319_Pro727delinsLeuPheIleHisAsnHisGluGlnHisHisLysAlaGlnValGluGluPheLeuAlaGlnHisGlySerGluTyrGlnSerValLysLeuValGlyProGluValArgMetAlaAsnAlaAspAlaArgAsnMetGlyAlaAspLeuCysArgGlnAspArgSerCysThrTyrTyrPheSerValAspAlaAspValAlaLeuThrGluProAsnSerLeuArgLeuLeuIleGlnGlnAsnLysAsnValIleAlaProLeuMetThrArgHisGlyArgLeuTrpSerAsnPheTrpGlyAlaLeuSerAlaAspGlyTyrTyrAlaArgSerGluAspTyrValAspIleValGlnGlyArgArgValGlyValTrpAsnValProTyrIleSerAsnIleTyrLeuIleLysGlySerAlaLeuArgGlyGluLeuGlnSerSerAspLeuPheHisHisSerLysLeuAspProAspMetAlaPheCysAlaAsnIleArgGlnGlnAspValPheMetPheLeuThrAsnArgHisThrLeuGlyHisLeuLeuSerLeuAspSerTyrArgThrThrHisLeuHisAsnAspLeuTrpGluValPheSerAsnProGluAspTrpLysGluLysTyrIleHisGlnAsnTyrThrLysAlaLeuAlaGlyLysLeuValGluThrProCysProAspValTyrTrpPheProIlePheThrGluValAlaCysAspGluLeuValGluGluMetGluHisPheGlyGlnTrpSerLeuGlyAsnAsnLysAspAsnArgIleGlnGlyGlyTyrGluAsnValProThrIleAspIleHisMetAsnGlnIleGlyPheGluArgGluTrpHisLysPheLeuLeuGluTyrIleAlaProMetThrGluLysLeuTyrProGlyTyrTyrThrArgAlaGlnPheAspLeuAlaPheValValArgTyrLysProAspGluGlnProSerLeuMetProHisHisAspAlaSerThrPheThrIleAsnIleAlaLeuAsnArgValGlyValAspTyrGluGlyGlyGlyCysArgPheLeuArgTyrAsnCysSerIleArgAlaProArgLysGlyTrpThrLeuMetHisProGlyArgLeuThrHisTyrHisGluGlyLeuProThrThrArgGlyThrArgTyrIleAlaValSerPheValAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740120",
      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000196061.5:c.955C>T"
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          "RefSeq": {
            "hgvs": "NM_000302.4:c.955C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196061.4:p.Arg319Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000293.2:p.Arg319Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "ENST00000196061.4:c.955C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000196061.4:p.Arg319_Pro727delinsLeuPheIleHisAsnHisGluGlnHisHisLysAlaGlnValGluGluPheLeuAlaGlnHisGlySerGluTyrGlnSerValLysLeuValGlyProGluValArgMetAlaAsnAlaAspAlaArgAsnMetGlyAlaAspLeuCysArgGlnAspArgSerCysThrTyrTyrPheSerValAspAlaAspValAlaLeuThrGluProAsnSerLeuArgLeuLeuIleGlnGlnAsnLysAsnValIleAlaProLeuMetThrArgHisGlyArgLeuTrpSerAsnPheTrpGlyAlaLeuSerAlaAspGlyTyrTyrAlaArgSerGluAspTyrValAspIleValGlnGlyArgArgValGlyValTrpAsnValProTyrIleSerAsnIleTyrLeuIleLysGlySerAlaLeuArgGlyGluLeuGlnSerSerAspLeuPheHisHisSerLysLeuAspProAspMetAlaPheCysAlaAsnIleArgGlnGlnAspValPheMetPheLeuThrAsnArgHisThrLeuGlyHisLeuLeuSerLeuAspSerTyrArgThrThrHisLeuHisAsnAspLeuTrpGluValPheSerAsnProGluAspTrpLysGluLysTyrIleHisGlnAsnTyrThrLysAlaLeuAlaGlyLysLeuValGluThrProCysProAspValTyrTrpPheProIlePheThrGluValAlaCysAspGluLeuValGluGluMetGluHisPheGlyGlnTrpSerLeuGlyAsnAsnLysAspAsnArgIleGlnGlyGlyTyrGluAsnValProThrIleAspIleHisMetAsnGlnIleGlyPheGluArgGluTrpHisLysPheLeuLeuGluTyrIleAlaProMetThrGluLysLeuTyrProGlyTyrTyrThrArgAlaGlnPheAspLeuAlaPheValValArgTyrLysProAspGluGlnProSerLeuMetProHisHisAspAlaSerThrPheThrIleAsnIleAlaLeuAsnArgValGlyValAspTyrGluGlyGlyGlyCysArgPheLeuArgTyrAsnCysSerIleArgAlaProArgLysGlyTrpThrLeuMetHisProGlyArgLeuThrHisTyrHisGluGlyLeuProThrThrArgGlyThrArgTyrIleAlaValSerPheValAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281007",
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_000302.3:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000293.2:p.Arg319Ter",
        "hgvsWellDefined": "NP_000293.2:p.Arg319_Pro727delinsLeuPheIleHisAsnHisGluGlnHisHisLysAlaGlnValGluGluPheLeuAlaGlnHisGlySerGluTyrGlnSerValLysLeuValGlyProGluValArgMetAlaAsnAlaAspAlaArgAsnMetGlyAlaAspLeuCysArgGlnAspArgSerCysThrTyrTyrPheSerValAspAlaAspValAlaLeuThrGluProAsnSerLeuArgLeuLeuIleGlnGlnAsnLysAsnValIleAlaProLeuMetThrArgHisGlyArgLeuTrpSerAsnPheTrpGlyAlaLeuSerAlaAspGlyTyrTyrAlaArgSerGluAspTyrValAspIleValGlnGlyArgArgValGlyValTrpAsnValProTyrIleSerAsnIleTyrLeuIleLysGlySerAlaLeuArgGlyGluLeuGlnSerSerAspLeuPheHisHisSerLysLeuAspProAspMetAlaPheCysAlaAsnIleArgGlnGlnAspValPheMetPheLeuThrAsnArgHisThrLeuGlyHisLeuLeuSerLeuAspSerTyrArgThrThrHisLeuHisAsnAspLeuTrpGluValPheSerAsnProGluAspTrpLysGluLysTyrIleHisGlnAsnTyrThrLysAlaLeuAlaGlyLysLeuValGluThrProCysProAspValTyrTrpPheProIlePheThrGluValAlaCysAspGluLeuValGluGluMetGluHisPheGlyGlnTrpSerLeuGlyAsnAsnLysAspAsnArgIleGlnGlyGlyTyrGluAsnValProThrIleAspIleHisMetAsnGlnIleGlyPheGluArgGluTrpHisLysPheLeuLeuGluTyrIleAlaProMetThrGluLysLeuTyrProGlyTyrTyrThrArgAlaGlnPheAspLeuAlaPheValValArgTyrLysProAspGluGlnProSerLeuMetProHisHisAspAlaSerThrPheThrIleAsnIleAlaLeuAsnArgValGlyValAspTyrGluGlyGlyGlyCysArgPheLeuArgTyrAsnCysSerIleArgAlaProArgLysGlyTrpThrLeuMetHisProGlyArgLeuThrHisTyrHisGluGlyLeuProThrThrArgGlyThrArgTyrIleAlaValSerPheValAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006363"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021671",
      "coordinates": [
        {
          "allele": "T",
          "end": 1209,
          "referenceAllele": "C",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_001316320.1:c.1096C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001303249.1:p.Arg366_Pro774delinsLeuPheIleHisAsnHisGluGlnHisHisLysAlaGlnValGluGluPheLeuAlaGlnHisGlySerGluTyrGlnSerValLysLeuValGlyProGluValArgMetAlaAsnAlaAspAlaArgAsnMetGlyAlaAspLeuCysArgGlnAspArgSerCysThrTyrTyrPheSerValAspAlaAspValAlaLeuThrGluProAsnSerLeuArgLeuLeuIleGlnGlnAsnLysAsnValIleAlaProLeuMetThrArgHisGlyArgLeuTrpSerAsnPheTrpGlyAlaLeuSerAlaAspGlyTyrTyrAlaArgSerGluAspTyrValAspIleValGlnGlyArgArgValGlyValTrpAsnValProTyrIleSerAsnIleTyrLeuIleLysGlySerAlaLeuArgGlyGluLeuGlnSerSerAspLeuPheHisHisSerLysLeuAspProAspMetAlaPheCysAlaAsnIleArgGlnGlnAspValPheMetPheLeuThrAsnArgHisThrLeuGlyHisLeuLeuSerLeuAspSerTyrArgThrThrHisLeuHisAsnAspLeuTrpGluValPheSerAsnProGluAspTrpLysGluLysTyrIleHisGlnAsnTyrThrLysAlaLeuAlaGlyLysLeuValGluThrProCysProAspValTyrTrpPheProIlePheThrGluValAlaCysAspGluLeuValGluGluMetGluHisPheGlyGlnTrpSerLeuGlyAsnAsnLysAspAsnArgIleGlnGlyGlyTyrGluAsnValProThrIleAspIleHisMetAsnGlnIleGlyPheGluArgGluTrpHisLysPheLeuLeuGluTyrIleAlaProMetThrGluLysLeuTyrProGlyTyrTyrThrArgAlaGlnPheAspLeuAlaPheValValArgTyrLysProAspGluGlnProSerLeuMetProHisHisAspAlaSerThrPheThrIleAsnIleAlaLeuAsnArgValGlyValAspTyrGluGlyGlyGlyCysArgPheLeuArgTyrAsnCysSerIleArgAlaProArgLysGlyTrpThrLeuMetHisProGlyArgLeuThrHisTyrHisGluGlyLeuProThrThrArgGlyThrArgTyrIleAlaValSerPheValAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "XM_011541594.1:c.1036C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011539896.1:p.Arg346_Pro754delinsLeuPheIleHisAsnHisGluGlnHisHisLysAlaGlnValGluGluPheLeuAlaGlnHisGlySerGluTyrGlnSerValLysLeuValGlyProGluValArgMetAlaAsnAlaAspAlaArgAsnMetGlyAlaAspLeuCysArgGlnAspArgSerCysThrTyrTyrPheSerValAspAlaAspValAlaLeuThrGluProAsnSerLeuArgLeuLeuIleGlnGlnAsnLysAsnValIleAlaProLeuMetThrArgHisGlyArgLeuTrpSerAsnPheTrpGlyAlaLeuSerAlaAspGlyTyrTyrAlaArgSerGluAspTyrValAspIleValGlnGlyArgArgValGlyValTrpAsnValProTyrIleSerAsnIleTyrLeuIleLysGlySerAlaLeuArgGlyGluLeuGlnSerSerAspLeuPheHisHisSerLysLeuAspProAspMetAlaPheCysAlaAsnIleArgGlnGlnAspValPheMetPheLeuThrAsnArgHisThrLeuGlyHisLeuLeuSerLeuAspSerTyrArgThrThrHisLeuHisAsnAspLeuTrpGluValPheSerAsnProGluAspTrpLysGluLysTyrIleHisGlnAsnTyrThrLysAlaLeuAlaGlyLysLeuValGluThrProCysProAspValTyrTrpPheProIlePheThrGluValAlaCysAspGluLeuValGluGluMetGluHisPheGlyGlnTrpSerLeuGlyAsnAsnLysAspAsnArgIleGlnGlyGlyTyrGluAsnValProThrIleAspIleHisMetAsnGlnIleGlyPheGluArgGluTrpHisLysPheLeuLeuGluTyrIleAlaProMetThrGluLysLeuTyrProGlyTyrTyrThrArgAlaGlnPheAspLeuAlaPheValValArgTyrLysProAspGluGlnProSerLeuMetProHisHisAspAlaSerThrPheThrIleAsnIleAlaLeuAsnArgValGlyValAspTyrGluGlyGlyGlyCysArgPheLeuArgTyrAsnCysSerIleArgAlaProArgLysGlyTrpThrLeuMetHisProGlyArgLeuThrHisTyrHisGluGlyLeuProThrThrArgGlyThrArgTyrIleAlaValSerPheValAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "XM_024447707.1:c.289C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303475.1:p.Arg97Ter",
        "hgvsWellDefined": "XP_024303475.1:p.Arg97_Pro505delinsLeuPheIleHisAsnHisGluGlnHisHisLysAlaGlnValGluGluPheLeuAlaGlnHisGlySerGluTyrGlnSerValLysLeuValGlyProGluValArgMetAlaAsnAlaAspAlaArgAsnMetGlyAlaAspLeuCysArgGlnAspArgSerCysThrTyrTyrPheSerValAspAlaAspValAlaLeuThrGluProAsnSerLeuArgLeuLeuIleGlnGlnAsnLysAsnValIleAlaProLeuMetThrArgHisGlyArgLeuTrpSerAsnPheTrpGlyAlaLeuSerAlaAspGlyTyrTyrAlaArgSerGluAspTyrValAspIleValGlnGlyArgArgValGlyValTrpAsnValProTyrIleSerAsnIleTyrLeuIleLysGlySerAlaLeuArgGlyGluLeuGlnSerSerAspLeuPheHisHisSerLysLeuAspProAspMetAlaPheCysAlaAsnIleArgGlnGlnAspValPheMetPheLeuThrAsnArgHisThrLeuGlyHisLeuLeuSerLeuAspSerTyrArgThrThrHisLeuHisAsnAspLeuTrpGluValPheSerAsnProGluAspTrpLysGluLysTyrIleHisGlnAsnTyrThrLysAlaLeuAlaGlyLysLeuValGluThrProCysProAspValTyrTrpPheProIlePheThrGluValAlaCysAspGluLeuValGluGluMetGluHisPheGlyGlnTrpSerLeuGlyAsnAsnLysAspAsnArgIleGlnGlyGlyTyrGluAsnValProThrIleAspIleHisMetAsnGlnIleGlyPheGluArgGluTrpHisLysPheLeuLeuGluTyrIleAlaProMetThrGluLysLeuTyrProGlyTyrTyrThrArgAlaGlnPheAspLeuAlaPheValValArgTyrLysProAspGluGlnProSerLeuMetProHisHisAspAlaSerThrPheThrIleAsnIleAlaLeuAsnArgValGlyValAspTyrGluGlyGlyGlyCysArgPheLeuArgTyrAsnCysSerIleArgAlaProArgLysGlyTrpThrLeuMetHisProGlyArgLeuThrHisTyrHisGluGlyLeuProThrThrArgGlyThrArgTyrIleAlaValSerPheValAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA281007",
      "coordinates": [
        {
          "allele": "T",
          "end": 1018,
          "referenceAllele": "C",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_000302.4:c.955C>T"
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      "proteinEffect": {
        "hgvs": "NP_000293.2:p.Arg319Ter",
        "hgvsWellDefined": "NP_000293.2:p.Arg319_Pro727delinsLeuPheIleHisAsnHisGluGlnHisHisLysAlaGlnValGluGluPheLeuAlaGlnHisGlySerGluTyrGlnSerValLysLeuValGlyProGluValArgMetAlaAsnAlaAspAlaArgAsnMetGlyAlaAspLeuCysArgGlnAspArgSerCysThrTyrTyrPheSerValAspAlaAspValAlaLeuThrGluProAsnSerLeuArgLeuLeuIleGlnGlnAsnLysAsnValIleAlaProLeuMetThrArgHisGlyArgLeuTrpSerAsnPheTrpGlyAlaLeuSerAlaAspGlyTyrTyrAlaArgSerGluAspTyrValAspIleValGlnGlyArgArgValGlyValTrpAsnValProTyrIleSerAsnIleTyrLeuIleLysGlySerAlaLeuArgGlyGluLeuGlnSerSerAspLeuPheHisHisSerLysLeuAspProAspMetAlaPheCysAlaAsnIleArgGlnGlnAspValPheMetPheLeuThrAsnArgHisThrLeuGlyHisLeuLeuSerLeuAspSerTyrArgThrThrHisLeuHisAsnAspLeuTrpGluValPheSerAsnProGluAspTrpLysGluLysTyrIleHisGlnAsnTyrThrLysAlaLeuAlaGlyLysLeuValGluThrProCysProAspValTyrTrpPheProIlePheThrGluValAlaCysAspGluLeuValGluGluMetGluHisPheGlyGlnTrpSerLeuGlyAsnAsnLysAspAsnArgIleGlnGlyGlyTyrGluAsnValProThrIleAspIleHisMetAsnGlnIleGlyPheGluArgGluTrpHisLysPheLeuLeuGluTyrIleAlaProMetThrGluLysLeuTyrProGlyTyrTyrThrArgAlaGlnPheAspLeuAlaPheValValArgTyrLysProAspGluGlnProSerLeuMetProHisHisAspAlaSerThrPheThrIleAsnIleAlaLeuAsnArgValGlyValAspTyrGluGlyGlyGlyCysArgPheLeuArgTyrAsnCysSerIleArgAlaProArgLysGlyTrpThrLeuMetHisProGlyArgLeuThrHisTyrHisGluGlyLeuProThrThrArgGlyThrArgTyrIleAlaValSerPheValAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000196061.5:c.955C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000302.4:c.955C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196061.4:p.Arg319Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000293.2:p.Arg319Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021671",
      "coordinates": [
        {
          "allele": "T",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NM_001316320.2:c.1096C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303249.1:p.Arg366Ter",
        "hgvsWellDefined": "NP_001303249.1:p.Arg366_Pro774delinsLeuPheIleHisAsnHisGluGlnHisHisLysAlaGlnValGluGluPheLeuAlaGlnHisGlySerGluTyrGlnSerValLysLeuValGlyProGluValArgMetAlaAsnAlaAspAlaArgAsnMetGlyAlaAspLeuCysArgGlnAspArgSerCysThrTyrTyrPheSerValAspAlaAspValAlaLeuThrGluProAsnSerLeuArgLeuLeuIleGlnGlnAsnLysAsnValIleAlaProLeuMetThrArgHisGlyArgLeuTrpSerAsnPheTrpGlyAlaLeuSerAlaAspGlyTyrTyrAlaArgSerGluAspTyrValAspIleValGlnGlyArgArgValGlyValTrpAsnValProTyrIleSerAsnIleTyrLeuIleLysGlySerAlaLeuArgGlyGluLeuGlnSerSerAspLeuPheHisHisSerLysLeuAspProAspMetAlaPheCysAlaAsnIleArgGlnGlnAspValPheMetPheLeuThrAsnArgHisThrLeuGlyHisLeuLeuSerLeuAspSerTyrArgThrThrHisLeuHisAsnAspLeuTrpGluValPheSerAsnProGluAspTrpLysGluLysTyrIleHisGlnAsnTyrThrLysAlaLeuAlaGlyLysLeuValGluThrProCysProAspValTyrTrpPheProIlePheThrGluValAlaCysAspGluLeuValGluGluMetGluHisPheGlyGlnTrpSerLeuGlyAsnAsnLysAspAsnArgIleGlnGlyGlyTyrGluAsnValProThrIleAspIleHisMetAsnGlnIleGlyPheGluArgGluTrpHisLysPheLeuLeuGluTyrIleAlaProMetThrGluLysLeuTyrProGlyTyrTyrThrArgAlaGlnPheAspLeuAlaPheValValArgTyrLysProAspGluGlnProSerLeuMetProHisHisAspAlaSerThrPheThrIleAsnIleAlaLeuAsnArgValGlyValAspTyrGluGlyGlyGlyCysArgPheLeuArgTyrAsnCysSerIleArgAlaProArgLysGlyTrpThrLeuMetHisProGlyArgLeuThrHisTyrHisGluGlyLeuProThrThrArgGlyThrArgTyrIleAlaValSerPheValAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684160"
    }
  ],
  "type": "nucleotide"
}