{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA369953982",
  "communityStandardTitle": [
    "NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2920779[alleleid]",
        "alleleId": 2920779,
        "preferredName": "NM_018941.4(CLN8):c.627C>G (p.Tyr209Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2757008",
        "RCV": [
          "RCV003531840"
        ],
        "variationId": 2757008
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.1728499C>G?assembly=hg19",
        "id": "chr8:g.1728499C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.1780333C>G?assembly=hg38",
        "id": "chr8:g.1780333C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2486489059",
        "rs": 2486489059
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-1780333-C-G?dataset=gnomad_r4",
        "id": "8-1780333-C-G",
        "variant": "8:1780333 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 1780333,
          "referenceAllele": "C",
          "start": 1780332
        }
      ],
      "hgvs": [
        "NC_000008.11:g.1780333C>G",
        "CM000670.2:g.1780333C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 1728499,
          "referenceAllele": "C",
          "start": 1728498
        }
      ],
      "hgvs": [
        "NC_000008.10:g.1728499C>G",
        "CM000670.1:g.1728499C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 1715906,
          "referenceAllele": "C",
          "start": 1715905
        }
      ],
      "hgvs": [
        "NC_000008.9:g.1715906C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29556,
          "referenceAllele": "C",
          "start": 29555
        }
      ],
      "hgvs": [
        "NG_008656.2:g.29556C>G",
        "LRG_691:g.29556C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001149"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000331222.6:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328182.4:p.Tyr209Ter",
        "hgvsWellDefined": "ENSP00000328182.4:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.627C>G"
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.627C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Tyr209Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Tyr209Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000519254.2:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490016.1:p.Tyr209Ter",
        "hgvsWellDefined": "ENSP00000490016.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000520991.3:c.*38C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487905.2:n.*38C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000635751.1:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489694.1:p.Tyr209Ter",
        "hgvsWellDefined": "ENSP00000489694.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "endIntronDirection": "+",
          "endIntronOffset": 8736,
          "referenceAllele": "C",
          "start": 496,
          "startIntronDirection": "+",
          "startIntronOffset": 8735
        }
      ],
      "hgvs": [
        "ENST00000635773.1:c.496+8736C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 720,
          "endIntronDirection": "+",
          "endIntronOffset": 8736,
          "referenceAllele": "C",
          "start": 720,
          "startIntronDirection": "+",
          "startIntronOffset": 8735
        }
      ],
      "hgvs": [
        "ENST00000635855.1:c.543+8736C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489726.1:n.543+8736C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000635970.1:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490439.1:p.Tyr209Ter",
        "hgvsWellDefined": "ENSP00000490439.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 8736,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 8735
        }
      ],
      "hgvs": [
        "ENST00000636175.1:c.343+8736C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 752,
          "endIntronDirection": "+",
          "endIntronOffset": 8736,
          "referenceAllele": "C",
          "start": 752,
          "startIntronDirection": "+",
          "startIntronOffset": 8735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000636934.1:c.543+8736C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490218.1:n.543+8736C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637083.1:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490235.1:p.Tyr209Ter",
        "hgvsWellDefined": "ENSP00000490235.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637156.1:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490458.1:p.Tyr209Ter",
        "hgvsWellDefined": "ENSP00000490458.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000331222.4:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328182.4:p.Tyr209Ter",
        "hgvsWellDefined": "ENSP00000328182.4:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "referenceAllele": "C",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000519254.1:n.146C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "C",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000523237.1:n.402C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349665"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741971168",
      "coordinates": [
        {
          "allele": "G",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.3:c.627C>G",
        "LRG_691t1:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Tyr209Ter",
        "hgvsWellDefined": "NP_061764.2:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.3:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Tyr209Ter",
        "hgvsWellDefined": "XP_005266078.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064891"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266022.1:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266079.1:p.Tyr209Ter",
        "hgvsWellDefined": "XP_005266079.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266023.1:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266080.1:p.Tyr209Ter",
        "hgvsWellDefined": "XP_005266080.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534745.1:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533047.1:p.Tyr209Ter",
        "hgvsWellDefined": "XP_011533047.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.1:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Tyr209Ter",
        "hgvsWellDefined": "XP_011533048.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101758"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.4:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Tyr209Ter",
        "hgvsWellDefined": "XP_005266078.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.2:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Tyr209Ter",
        "hgvsWellDefined": "XP_011533048.1:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741971168",
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.4:c.627C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Tyr209Ter",
        "hgvsWellDefined": "NP_061764.2:p.Tyr209_Pro286delinsHisMetTrpTrpValCysPheTrpHisTrpAspGlyLeuValSerSerLeuTyrLeuProHisLeuThrLeuPheLeuValGlyLeuAlaLeuLeuThrLeuIleIleAsnProTyrTrpThrHisLysLysThrGlnGlnLeuLeuAsnProValAspTrpAsnPheAlaGlnProGluAlaLysSerArgProGluGlyAsnGlyGlnLeuLeuArgLysLysArgProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.627C>G"
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.627C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Tyr209Ter"
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Tyr209Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}