{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8372756", "communityStandardTitle": [ "NM_025099.6(CTC1):c.24C>A (p.Val8=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=688874[alleleid]", "alleleId": 688874, "preferredName": "NM_025099.6(CTC1):c.24C>A (p.Val8=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/698540", "RCV": [ "RCV000865988", "RCV001448256", "RCV001807365" ], "variationId": 698540 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-8151331-G-T", "id": "17-8151331-G-T", "variant": "17:8151331 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8151331G>T?assembly=hg19", "id": "chr17:g.8151331G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8248013G>T?assembly=hg38", "id": "chr17:g.8248013G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/749818659", "rs": 749818659 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-8151331-G-T?dataset=gnomad_r2_1", "id": "17-8151331-G-T", "variant": "17:8151331 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-8248013-G-T?dataset=gnomad_r3", "id": "17-8248013-G-T", "variant": "17:8248013 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-8248013-G-T?dataset=gnomad_r4", "id": "17-8248013-G-T", "variant": "17:8248013 G / T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 8248013, "referenceAllele": "G", "start": 8248012 } ], "hgvs": [ "NC_000017.11:g.8248013G>T", "CM000679.2:g.8248013G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 8151331, "referenceAllele": "G", "start": 8151330 } ], "hgvs": [ "NC_000017.10:g.8151331G>T", "CM000679.1:g.8151331G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 8092056, "referenceAllele": "G", "start": 8092055 } ], "hgvs": [ "NC_000017.9:g.8092056G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 5083, "referenceAllele": "C", "start": 5082 } ], "hgvs": [ "NG_032148.1:g.5083C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005144" }, { "coordinates": [ { "allele": "A", "end": 5083, "referenceAllele": "C", "start": 5082 } ], "hgvs": [ "NG_032148.2:g.5083C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616334" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000580299.2:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000462607.2:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS906027" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581729.2:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000462720.2:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS906034" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581967.2:n.46C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS906036" }, { "coordinates": [ { "allele": "A", "end": 29, "referenceAllele": "C", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699849.1:c.-710C>A" ], "proteinEffect": { "hgvs": "ENSP00000514647.1:n.-710C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910721" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699850.1:n.46C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910722" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699851.1:n.46C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910723" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699852.1:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000514648.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910724" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699853.1:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000514649.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910725" }, { "coordinates": [ { "allele": "A", "end": 32, "referenceAllele": "C", "start": 31 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699854.1:n.32C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910726" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699855.1:n.46C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910727" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699856.1:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000514650.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910728" }, { "coordinates": [ { "allele": "A", "end": 32, "referenceAllele": "C", "start": 31 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699857.1:n.32C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910729" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699858.1:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000514651.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910730" }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "C", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699859.1:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000514652.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS910731" }, { "coordinates": [ { "allele": "A", "end": 46, "referenceAllele": "C", "start": 45 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699861.1:n.46C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910733" }, { "coordinates": [ { "allele": "A", "end": 30, "referenceAllele": "C", "start": 29 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.7:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756234" }, { "coordinates": [ { "allele": "A", "end": 29, "referenceAllele": "C", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.2:n.29C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760910" }, { "coordinates": [ { "allele": "A", "end": 32, "referenceAllele": "C", "start": 31 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000643543.1:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000494323.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767338" }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "C", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000651323.1:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000498499.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS771599", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.24C>A" }, "RefSeq": { "hgvs": "NM_025099.6:c.24C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Val8=" }, "RefSeq": { "hgvs": "NP_079375.3:p.Val8=" } } } }, { "coordinates": [ { "allele": "A", "end": 32, "referenceAllele": "C", "start": 31 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000315684.12:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000313759.8:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS257118" }, { "coordinates": [ { "allele": "A", "end": 30, "referenceAllele": "C", "start": 29 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.6:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS300236" }, { "coordinates": [ { "allele": "A", "end": 29, "referenceAllele": "C", "start": 28 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.1:n.29C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS386900" }, { "coordinates": [ { "allele": "T", "end": 239, "endIntronDirection": "+", "endIntronOffset": 157, "referenceAllele": "G", "start": 239, "startIntronDirection": "+", "startIntronOffset": 156 } ], "gene": "http://reg.genome.network/gene/GN008863", "geneNCBI_id": 5198, "geneSymbol": "PFAS", "hgvs": [ "ENST00000585183.5:c.-80+157G>T" ], "proteinEffect": { "hgvs": "ENSP00000463362.1:n.-80+157G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS388582" }, { "@id": "http://reg.genome.network/allele/PA2830052447", "coordinates": [ { "allele": "A", "end": 83, "referenceAllele": "C", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.5:c.24C>A" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS038199" }, { "coordinates": [ { "allele": "A", "end": 83, "referenceAllele": "C", "start": 82 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.1:n.83C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS051686" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.2:c.24C>A" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074141" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.2:c.24C>A" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074142" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721579.2:c.24C>A" ], "proteinEffect": { "hgvs": "XP_006721642.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS074143" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.1:c.24C>A" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS091141" }, { "coordinates": [ { "allele": "A", "end": 40, "referenceAllele": "C", "start": 39 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.1:c.-666C>A" ], "proteinEffect": { "hgvs": "XP_011522313.1:n.-666C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS091142" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.2:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118501" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.2:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118502" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429825.1:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118503" }, { "@id": "http://reg.genome.network/allele/PA2830052447", "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "C", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.6:c.24C>A" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS526212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.24C>A" }, "RefSeq": { "hgvs": "NM_025099.6:c.24C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Val8=" }, "RefSeq": { "hgvs": "NP_079375.3:p.Val8=" } } } }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.3:c.24C>A" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS540328" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.3:c.24C>A" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS540329" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.2:c.24C>A" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Val8=" }, "referenceSequence": "http://reg.genome.network/refseq/RS547284" }, { "coordinates": [ { "allele": "A", "end": 40, "referenceAllele": "C", "start": 39 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.2:c.-666C>A" ], "proteinEffect": { "hgvs": "XP_011522313.1:n.-666C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS547285" }, { "coordinates": [ { "allele": "T", "end": 261, "endIntronDirection": "+", "endIntronOffset": 157, "referenceAllele": "G", "start": 261, "startIntronDirection": "+", "startIntronOffset": 156 } ], "gene": "http://reg.genome.network/gene/GN008863", "geneNCBI_id": 5198, "geneSymbol": "PFAS", "hgvs": [ "XM_024450804.1:c.-80+157G>T" ], "proteinEffect": { "hgvs": "XP_024306572.1:n.-80+157G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS584334" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752639.1:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599316" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752640.1:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599317" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752641.1:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599318" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752642.1:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599319" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752643.1:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599320" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_001752644.1:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS599321" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_002958073.1:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604200" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.3:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606713" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "C", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.3:n.67C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS606714" }, { "coordinates": [ { "allele": "A", "end": 44, "referenceAllele": "C", "start": 43 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.2:n.44C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702498" } ], "type": "nucleotide" }