{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339227905",
  "communityStandardTitle": [
    "NM_001371928.1(AHDC1):c.3204C>G (p.Tyr1068Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=536587[alleleid]",
        "alleleId": 536587,
        "preferredName": "NM_001371928.1(AHDC1):c.3204C>G (p.Tyr1068Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/546264",
        "RCV": [
          "RCV000658113",
          "RCV001563697"
        ],
        "variationId": 546264
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27875423G>C?assembly=hg19",
        "id": "chr1:g.27875423G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27548912G>C?assembly=hg38",
        "id": "chr1:g.27548912G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1036650716",
        "rs": 1036650716
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 27548912,
          "referenceAllele": "G",
          "start": 27548911
        }
      ],
      "hgvs": [
        "NC_000001.11:g.27548912G>C",
        "CM000663.2:g.27548912G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 27875423,
          "referenceAllele": "G",
          "start": 27875422
        }
      ],
      "hgvs": [
        "NC_000001.10:g.27875423G>C",
        "CM000663.1:g.27875423G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 27748010,
          "referenceAllele": "G",
          "start": 27748009
        }
      ],
      "hgvs": [
        "NC_000001.9:g.27748010G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 59583,
          "referenceAllele": "C",
          "start": 59582
        }
      ],
      "hgvs": [
        "NG_034158.1:g.59583C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3802,
          "referenceAllele": "C",
          "start": 3801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.10:c.3204C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Tyr1068Ter",
        "hgvsWellDefined": "ENSP00000247087.4:p.Tyr1068_Leu1603delinsMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4105,
          "referenceAllele": "C",
          "start": 4104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642245.1:c.3204C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495072.1:p.Tyr1068Ter",
        "hgvsWellDefined": "ENSP00000495072.1:p.Tyr1068_Leu1603delinsMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3827,
          "referenceAllele": "C",
          "start": 3826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642416.1:c.3204C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494394.1:p.Tyr1068Ter",
        "hgvsWellDefined": "ENSP00000494394.1:p.Tyr1068_Leu1603delinsMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3808,
          "referenceAllele": "C",
          "start": 3807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000644989.1:c.3204C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495665.1:p.Tyr1068Ter",
        "hgvsWellDefined": "ENSP00000495665.1:p.Tyr1068_Leu1603delinsMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4105,
          "referenceAllele": "C",
          "start": 4104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000673934.1:c.3204C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501218.1:p.Tyr1068Ter",
        "hgvsWellDefined": "ENSP00000501218.1:p.Tyr1068_Leu1603delinsMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.3204C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.3204C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Tyr1068Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Tyr1068Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3801,
          "referenceAllele": "C",
          "start": 3800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.9:c.3204C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Tyr1068Ter",
        "hgvsWellDefined": "ENSP00000247087.4:p.Tyr1068_Leu1603delinsMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4173,
          "referenceAllele": "C",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000374011.6:c.3204C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363123.2:p.Tyr1068Ter",
        "hgvsWellDefined": "ENSP00000363123.2:p.Tyr1068_Leu1603delinsMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831437",
      "coordinates": [
        {
          "allele": "G",
          "end": 4035,
          "referenceAllele": "C",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
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        "NM_001029882.3:c.3204C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS008930"
    },
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      "coordinates": [
        {
          "allele": "G",
          "end": 4160,
          "referenceAllele": "C",
          "start": 4159
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057399"
    },
    {
      "coordinates": [
        {
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          "start": 4264
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      "referenceSequence": "http://reg.genome.network/refseq/RS057400"
    },
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        {
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          "start": 4284
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 4156
        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS057402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 3933
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3949,
          "referenceAllele": "C",
          "start": 3948
        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 4278
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      "gene": "http://reg.genome.network/gene/GN025230",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3857,
          "referenceAllele": "C",
          "start": 3856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Tyr1068Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108199"
    },
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      "coordinates": [
        {
          "allele": "G",
          "end": 4161,
          "referenceAllele": "C",
          "start": 4160
        }
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    },
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      "coordinates": [
        {
          "allele": "G",
          "end": 4270,
          "referenceAllele": "C",
          "start": 4269
        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532515"
    },
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      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 4374
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532516"
    },
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        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 4394
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4267,
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          "start": 4266
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      "referenceSequence": "http://reg.genome.network/refseq/RS532518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4044,
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          "start": 4043
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4389,
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          "start": 4388
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5144,
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          "start": 5143
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
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      "geneSymbol": "AHDC1",
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      "proteinEffect": {
        "hgvs": "XP_024302229.1:p.Tyr1068Ter",
        "hgvsWellDefined": "XP_024302229.1:p.Tyr1068_Leu1603delinsMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4271,
          "referenceAllele": "C",
          "start": 4270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.2:n.4271C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072559",
      "coordinates": [
        {
          "allele": "G",
          "end": 4105,
          "referenceAllele": "C",
          "start": 4104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001371928.1:c.3204C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358857.1:p.Tyr1068Ter",
        "hgvsWellDefined": "NP_001358857.1:p.Tyr1068_Leu1603delinsMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.3204C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.3204C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Tyr1068Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Tyr1068Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}