{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350344424",
  "communityStandardTitle": [
    "NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414306[alleleid]",
        "alleleId": 414306,
        "preferredName": "NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425943",
        "RCV": [
          "RCV000488614",
          "RCV001003722"
        ],
        "variationId": 425943
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.203417449C>A?assembly=hg19",
        "id": "chr2:g.203417449C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202552726C>A?assembly=hg38",
        "id": "chr2:g.202552726C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307352",
        "rs": 1085307352
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-202552726-C-A?dataset=gnomad_r4",
        "id": "2-202552726-C-A",
        "variant": "2:202552726 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 202552726,
          "referenceAllele": "C",
          "start": 202552725
        }
      ],
      "hgvs": [
        "NC_000002.12:g.202552726C>A",
        "CM000664.2:g.202552726C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 203417449,
          "referenceAllele": "C",
          "start": 203417448
        }
      ],
      "hgvs": [
        "NC_000002.11:g.203417449C>A",
        "CM000664.1:g.203417449C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 203125694,
          "referenceAllele": "C",
          "start": 203125693
        }
      ],
      "hgvs": [
        "NC_000002.10:g.203125694C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181400,
          "referenceAllele": "C",
          "start": 181399
        }
      ],
      "hgvs": [
        "NG_009363.1:g.181400C>A",
        "LRG_712:g.181400C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001571"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2572,
          "referenceAllele": "C",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.10:c.1424C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Ser475Ter",
        "hgvsWellDefined": "ENSP00000363708.4:p.Ser475_Leu1038delinsLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.1424C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.1424C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Ser475Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Ser475Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000638587.1:c.1355C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491062.1:p.Ser452Ter",
        "hgvsWellDefined": "ENSP00000491062.1:p.Ser452_Glu505del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374574.2:c.1424C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363702.2:p.Ser475Ter",
        "hgvsWellDefined": "ENSP00000363702.2:p.Ser475_Arg530delinsLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1963,
          "referenceAllele": "C",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "ENST00000374580.8:c.1424C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363708.4:p.Ser475Ter",
        "hgvsWellDefined": "ENSP00000363708.4:p.Ser475_Leu1038delinsLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438479",
      "coordinates": [
        {
          "allele": "A",
          "end": 2572,
          "referenceAllele": "C",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.6:c.1424C>A",
        "LRG_712t1:c.1424C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Ser475Ter",
        "hgvsWellDefined": "NP_001195.2:p.Ser475_Leu1038delinsLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "C",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511687.1:c.1424C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509989.1:p.Ser475Ter",
        "hgvsWellDefined": "XP_011509989.1:p.Ser475_Leu1037delinsLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnSerGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2589,
          "referenceAllele": "C",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "XM_011511688.1:c.1424C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509990.1:p.Ser475Ter",
        "hgvsWellDefined": "XP_011509990.1:p.Ser475_Arg530delinsLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078949"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645438479",
      "coordinates": [
        {
          "allele": "A",
          "end": 2572,
          "referenceAllele": "C",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NM_001204.7:c.1424C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001195.2:p.Ser475Ter",
        "hgvsWellDefined": "NP_001195.2:p.Ser475_Leu1038delinsLeuLysGluThrIleGluAspCysTrpAspGlnAspAlaGluAlaArgLeuThrAlaGlnCysAlaGluGluArgMetAlaGluLeuMetMetIleTrpGluArgAsnLysSerValSerProThrValAsnProMetSerThrAlaMetGlnAsnGluArgAsnLeuSerHisAsnArgArgValProLysIleGlyProTyrProAspTyrSerSerSerSerTyrIleGluAspSerIleHisHisThrAspSerIleValLysAsnIleSerSerGluHisSerMetSerSerThrProLeuThrIleGlyGluLysAsnArgAsnSerIleAsnTyrGluArgGlnGlnAlaGlnAlaArgIleProSerProGluThrSerValThrSerLeuSerThrAsnThrThrThrThrAsnThrThrGlyLeuThrProSerThrGlyMetThrThrIleSerGluMetProTyrProAspGluThrAsnLeuHisThrThrAsnValAlaGlnSerIleGlyProThrProValCysLeuGlnLeuThrGluGluAspLeuGluThrAsnLysLeuAspProLysGluValAspLysAsnLeuLysGluSerSerAspGluAsnLeuMetGluHisSerLeuLysGlnPheSerGlyProAspProLeuSerSerThrSerSerSerLeuLeuTyrProLeuIleLysLeuAlaValGluAlaThrGlyGlnGlnAspPheThrGlnThrAlaAsnGlyGlnAlaCysLeuIleProAspValLeuProThrGlnIleTyrProLeuProLysGlnGlnAsnLeuProLysArgProThrSerLeuProLeuAsnThrLysAsnSerThrLysGluProArgLeuLysPheGlySerLysHisLysSerAsnLeuLysGlnValGluThrGlyValAlaLysMetAsnThrIleAsnAlaAlaGluProHisValValThrValThrMetAsnGlyValAlaGlyArgAsnHisSerValAsnSerHisAlaAlaThrThrGlnTyrAlaAsnGlyThrValLeuSerGlyGlnThrThrAsnIleValThrHisArgAlaGlnGluMetLeuGlnAsnGlnPheIleGlyGluAspThrArgLeuAsnIleAsnSerSerProAspGluHisGluProLeuLeuArgArgGluGlnGlnAlaGlyHisAspGluGlyValLeuAspArgLeuValAspArgArgGluArgProLeuGluGlyGlyArgThrAsnSerAsnAsnAsnAsnSerAsnProCysSerGluGlnAspValLeuAlaGlnGlyValProSerThrAlaAlaAspProGlyProSerLysProArgArgAlaGlnArgProAsnSerLeuAspLeuSerAlaThrAsnValLeuAspGlySerSerIleGlnIleGlyGluSerThrGlnAspGlyLysSerGlySerGlyGluLysIleLysLysArgValLysThrProTyrSerLeuLysArgTrpArgProSerThrTrpValIleSerThrGluSerLeuAspCysGluValAsnAsnAsnGlySerAsnArgAlaValHisSerLysSerSerThrAlaValTyrLeuAlaGluGlyGlyThrAlaThrThrMetValSerLysAspIleGlyMetAsnCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374580.10:c.1424C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001204.7:c.1424C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363708.4:p.Ser475Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001195.2:p.Ser475Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}