{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043812",
  "communityStandardTitle": [
    "NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472GlyfsTer?)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361493[alleleid]",
        "alleleId": 361493,
        "preferredName": "NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472fs)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374607",
        "RCV": [
          "RCV000415834"
        ],
        "variationId": 374607
      }
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        "@id": "http://myvariant.info/v1/variant/chr12:g.52314567_52314568insTGCGGGAG?assembly=hg19",
        "id": "chr12:g.52314567_52314568insTGCGGGAG"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.51920783_51920784insTGCGGGAG?assembly=hg38",
        "id": "chr12:g.51920783_51920784insTGCGGGAG"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519168",
        "rs": 1057519168
      }
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          "end": 51920794,
          "referenceAllele": "",
          "start": 51920794
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
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          "end": 52314578,
          "referenceAllele": "",
          "start": 52314578
        }
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "12",
      "coordinates": [
        {
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          "end": 50600845,
          "referenceAllele": "",
          "start": 50600845
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      "referenceGenome": "NCBI36",
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    },
    {
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        {
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          "referenceAllele": "",
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      "hgvs": [
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        "LRG_543:g.18370_18377dup"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001604"
    }
  ],
  "transcriptAlleles": [
    {
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          "referenceAllele": "",
          "start": 1247
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      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914257"
    },
    {
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          "referenceAllele": "",
          "start": 1703
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      "geneNCBI_id": 94,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914260"
    },
    {
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        "hgvsWellDefined": "ENSP00000373574.4:p.[Trp472_Tyr473delinsGlySerAlaGlyThrGlnThr;Asn475Leu;Pro476_Ser477insAsp;Ala478Pro;Leu480_Leu483delinsCysGlySerArg;Ile485_Lys486delinsHisTyr;Thr488Lys;Gln490_Asn494delinsAlaThrValGlnArg;Pro496_Glu497delinsLeu;Pro499_Val501del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752763",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Trp472GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000011.2:p.Trp472GlyfsTer?"
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        }
      }
    },
    {
      "coordinates": [
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000373574.4:p.Trp472GlyfsTer?",
        "hgvsWellDefined": "ENSP00000373574.4:p.[Trp472_Tyr473delinsGlySerAlaGlyThrGlnThr;Asn475Leu;Pro476_Ser477insAsp;Ala478Pro;Leu480_Leu483delinsCysGlySerArg;Ile485_Lys486delinsHisTyr;Thr488Lys;Gln490_Asn494delinsAlaThrValGlnArg;Pro496_Glu497delinsLeu;Pro499_Val501del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274102"
    },
    {
      "coordinates": [
        {
          "allele": "GGGAGTGC",
          "end": 953,
          "referenceAllele": "",
          "start": 953
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      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000419526.6:c.884_891dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392492.2:p.Trp298GlyfsTer?",
        "hgvsWellDefined": "ENSP00000392492.2:p.[Trp298_Tyr299delinsGlySerAlaGlyThrGlnThr;Asn301Leu;Pro302_Ser303insAsp;Ala304Pro;Leu306_Leu309delinsCysGlySerArg;Ile311_Lys312delinsHisTyr;Thr314Lys;Gln316_Asn320delinsAlaThrValGlnArg;Pro322_Glu323delinsLeu;Pro325_Val327del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285930"
    },
    {
      "coordinates": [
        {
          "allele": "GGGAGTGC",
          "end": 1556,
          "referenceAllele": "",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "ENST00000550683.5:c.1448_1455dup"
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      "proteinEffect": {
        "hgvs": "ENSP00000447884.1:p.Trp486GlyfsTer?",
        "hgvsWellDefined": "ENSP00000447884.1:p.[Trp486_Tyr487delinsGlySerAlaGlyThrGlnThr;Asn489Leu;Pro490_Ser491insAsp;Ala492Pro;Leu494_Leu497delinsCysGlySerArg;Ile499_Lys500delinsHisTyr;Thr502Lys;Gln504_Asn508delinsAlaThrValGlnArg;Pro510_Glu511delinsLeu;Pro513_Val515del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368202"
    },
    {
      "coordinates": [
        {
          "allele": "GGGAGTGC",
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          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN000175",
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      "geneSymbol": "ACVRL1",
      "hgvs": [
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        "LRG_543t1:c.1406_1413dup"
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      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Trp472GlyfsTer?",
        "hgvsWellDefined": "NP_000011.2:p.[Trp472_Tyr473delinsGlySerAlaGlyThrGlnThr;Asn475Leu;Pro476_Ser477insAsp;Ala478Pro;Leu480_Leu483delinsCysGlySerArg;Ile485_Lys486delinsHisTyr;Thr488Lys;Gln490_Asn494delinsAlaThrValGlnArg;Pro496_Glu497delinsLeu;Pro499_Val501del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006085"
    },
    {
      "coordinates": [
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          "allele": "GGGAGTGC",
          "end": 1559,
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      ],
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      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Trp472GlyfsTer?",
        "hgvsWellDefined": "NP_001070869.1:p.[Trp472_Tyr473delinsGlySerAlaGlyThrGlnThr;Asn475Leu;Pro476_Ser477insAsp;Ala478Pro;Leu480_Leu483delinsCysGlySerArg;Ile485_Lys486delinsHisTyr;Thr488Lys;Gln490_Asn494delinsAlaThrValGlnArg;Pro496_Glu497delinsLeu;Pro499_Val501del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009968"
    },
    {
      "coordinates": [
        {
          "allele": "GGGAGTGC",
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          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_005269235.2:c.1406_1413dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269292.1:p.Trp472GlyfsTer?",
        "hgvsWellDefined": "XP_005269292.1:p.[Trp472_Tyr473delinsGlySerAlaGlyThrGlnThr;Asn475Leu;Pro476_Ser477insAsp;Ala478Pro;Leu480_Leu483delinsCysGlySerArg;Ile485_Lys486delinsHisTyr;Thr488Lys;Gln490_Asn494delinsAlaThrValGlnArg;Pro496_Glu497delinsLeu;Pro499_Val501del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066074"
    },
    {
      "coordinates": [
        {
          "allele": "GGGAGTGC",
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          "referenceAllele": "",
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      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011537310.1:p.Trp382GlyfsTer?",
        "hgvsWellDefined": "XP_011537310.1:p.[Trp382_Tyr383delinsGlySerAlaGlyThrGlnThr;Asn385Leu;Pro386_Ser387insAsp;Ala388Pro;Leu390_Leu393delinsCysGlySerArg;Ile395_Lys396delinsHisTyr;Thr398Lys;Gln400_Asn404delinsAlaThrValGlnArg;Pro406_Glu407delinsLeu;Pro409_Val411del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105961"
    },
    {
      "coordinates": [
        {
          "allele": "GGGAGTGC",
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          "referenceAllele": "",
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      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "XM_024449279.1:c.617_624dup"
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      "proteinEffect": {
        "hgvs": "XP_024305047.1:p.Trp209GlyfsTer?",
        "hgvsWellDefined": "XP_024305047.1:p.[Trp209_Tyr210delinsGlySerAlaGlyThrGlnThr;Asn212Leu;Pro213_Ser214insAsp;Ala215Pro;Leu217_Leu220delinsCysGlySerArg;Ile222_Lys223delinsHisTyr;Thr225Lys;Gln227_Asn231delinsAlaThrValGlnArg;Pro233_Glu234delinsLeu;Pro236_Val238del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582837"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "",
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      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000011.2:p.Trp472GlyfsTer?",
        "hgvsWellDefined": "NP_000011.2:p.[Trp472_Tyr473delinsGlySerAlaGlyThrGlnThr;Asn475Leu;Pro476_Ser477insAsp;Ala478Pro;Leu480_Leu483delinsCysGlySerArg;Ile485_Lys486delinsHisTyr;Thr488Lys;Gln490_Asn494delinsAlaThrValGlnArg;Pro496_Glu497delinsLeu;Pro499_Val501del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373574.4:p.Trp472GlyfsTer?"
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          "RefSeq": {
            "hgvs": "NP_000011.2:p.Trp472GlyfsTer?"
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        }
      }
    },
    {
      "coordinates": [
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001070869.1:p.Trp472GlyfsTer?",
        "hgvsWellDefined": "NP_001070869.1:p.[Trp472_Tyr473delinsGlySerAlaGlyThrGlnThr;Asn475Leu;Pro476_Ser477insAsp;Ala478Pro;Leu480_Leu483delinsCysGlySerArg;Ile485_Lys486delinsHisTyr;Thr488Lys;Gln490_Asn494delinsAlaThrValGlnArg;Pro496_Glu497delinsLeu;Pro499_Val501del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676153"
    }
  ],
  "type": "nucleotide"
}