{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA566262", "communityStandardTitle": [ "NM_015215.4(CAMTA1):c.796G>A (p.Gly266Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=780768[alleleid]", "alleleId": 780768, "preferredName": "NM_015215.4(CAMTA1):c.796G>A (p.Gly266Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/795531", "RCV": [ "RCV000978863" ], "variationId": 795531 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-7721917-G-A", "id": "1-7721917-G-A", "variant": "1:7721917 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.7721917G>A?assembly=hg19", "id": "chr1:g.7721917G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.7661857G>A?assembly=hg38", "id": "chr1:g.7661857G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/559215203", "rs": 559215203 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-7721917-G-A?dataset=gnomad_r2_1", "id": "1-7721917-G-A", "variant": "1:7721917 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-7661857-G-A?dataset=gnomad_r3", "id": "1-7661857-G-A", "variant": "1:7661857 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-7661857-G-A?dataset=gnomad_r4", "id": "1-7661857-G-A", "variant": "1:7661857 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 7661857, "referenceAllele": "G", "start": 7661856 } ], "hgvs": [ "NC_000001.11:g.7661857G>A", "CM000663.2:g.7661857G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 7721917, "referenceAllele": "G", "start": 7721916 } ], "hgvs": [ "NC_000001.10:g.7721917G>A", "CM000663.1:g.7721917G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 7644504, "referenceAllele": "G", "start": 7644503 } ], "hgvs": [ "NC_000001.9:g.7644504G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 881534, "referenceAllele": "G", "start": 881533 } ], "hgvs": [ "NG_053148.1:g.881534G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617435" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 809, "referenceAllele": "G", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "ENST00000476864.2:c.796G>A" ], "proteinEffect": { "hgvs": "ENSP00000452319.2:p.Gly266Ser", "hgvsWellDefined": "ENSP00000452319.2:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS905246" }, { "coordinates": [ { "allele": "A", "end": 1022, "referenceAllele": "G", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "ENST00000700414.1:c.*647G>A" ], "proteinEffect": { "hgvs": "ENSP00000514978.1:n.*647G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911196" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "G", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "ENST00000700415.1:c.706G>A" ], "proteinEffect": { "hgvs": "ENSP00000514979.1:p.Gly236Ser", "hgvsWellDefined": "ENSP00000514979.1:p.Gly236Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911197" }, { "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "ENST00000700417.1:c.724G>A" ], "proteinEffect": { "hgvs": "ENSP00000514981.1:p.Gly242Ser", "hgvsWellDefined": "ENSP00000514981.1:p.Gly242Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911199" }, { "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "G", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "ENST00000700444.1:c.*565G>A" ], "proteinEffect": { "hgvs": "ENSP00000514992.1:n.*565G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911221" }, { "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "ENST00000303635.12:c.796G>A" ], "proteinEffect": { "hgvs": "ENSP00000306522.6:p.Gly266Ser", "hgvsWellDefined": "ENSP00000306522.6:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS745042", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303635.12:c.796G>A" }, "RefSeq": { "hgvs": "NM_015215.4:c.796G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306522.6:p.Gly266Ser" }, "RefSeq": { "hgvs": "NP_056030.1:p.Gly266Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 1003, "referenceAllele": "G", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "ENST00000303635.11:c.796G>A" ], "proteinEffect": { "hgvs": "ENSP00000306522.6:p.Gly266Ser", "hgvsWellDefined": "ENSP00000306522.6:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS255340" }, { "@id": "http://reg.genome.network/allele/PA915977929", "coordinates": [ { "allele": "A", "end": 1003, "referenceAllele": "G", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "NM_015215.3:c.796G>A" ], "proteinEffect": { "hgvs": "NP_056030.1:p.Gly266Ser", "hgvsWellDefined": "NP_056030.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS033838" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541083.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539385.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539385.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS108026" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541084.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539386.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539386.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS108027" }, { "coordinates": [ { "allele": "A", "end": 939, "referenceAllele": "G", "start": 938 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541085.1:c.784G>A" ], "proteinEffect": { "hgvs": "XP_011539387.1:p.Gly262Ser", "hgvsWellDefined": "XP_011539387.1:p.Gly262Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS108028" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541086.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539388.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539388.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS108029" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541087.1:c.724G>A" ], "proteinEffect": { "hgvs": "XP_011539389.1:p.Gly242Ser", "hgvsWellDefined": "XP_011539389.1:p.Gly242Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS108030" }, { "coordinates": [ { "allele": "A", "end": 794, "referenceAllele": "G", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541088.1:c.706G>A" ], "proteinEffect": { "hgvs": "XP_011539390.1:p.Gly236Ser", "hgvsWellDefined": "XP_011539390.1:p.Gly236Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS108031" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541089.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539391.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539391.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS108032" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541090.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539392.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539392.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS108033" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541091.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539393.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539393.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS108034" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541092.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539394.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539394.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS108035" }, { "@id": "http://reg.genome.network/allele/PA2827499264", "coordinates": [ { "allele": "A", "end": 933, "referenceAllele": "G", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "NM_001349608.1:c.706G>A" ], "proteinEffect": { "hgvs": "NP_001336537.1:p.Gly236Ser", "hgvsWellDefined": "NP_001336537.1:p.Gly236Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS518828" }, { "@id": "http://reg.genome.network/allele/PA2827500140", "coordinates": [ { "allele": "A", "end": 1003, "referenceAllele": "G", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "NM_001349609.1:c.796G>A" ], "proteinEffect": { "hgvs": "NP_001336538.1:p.Gly266Ser", "hgvsWellDefined": "NP_001336538.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS518829" }, { "@id": "http://reg.genome.network/allele/PA2827500994", "coordinates": [ { "allele": "A", "end": 1003, "referenceAllele": "G", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "NM_001349610.1:c.796G>A" ], "proteinEffect": { "hgvs": "NP_001336539.1:p.Gly266Ser", "hgvsWellDefined": "NP_001336539.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS518830" }, { "@id": "http://reg.genome.network/allele/PA2827501851", "coordinates": [ { "allele": "A", "end": 933, "referenceAllele": "G", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "NM_001349612.1:c.706G>A" ], "proteinEffect": { "hgvs": "NP_001336541.1:p.Gly236Ser", "hgvsWellDefined": "NP_001336541.1:p.Gly236Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS518831" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541083.2:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539385.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539385.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS554293" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541084.2:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539386.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539386.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS554294" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541086.3:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539388.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539388.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS554295" }, { "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "G", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541087.2:c.724G>A" ], "proteinEffect": { "hgvs": "XP_011539389.1:p.Gly242Ser", "hgvsWellDefined": "XP_011539389.1:p.Gly242Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS554296" }, { "coordinates": [ { "allele": "A", "end": 797, "referenceAllele": "G", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541088.2:c.706G>A" ], "proteinEffect": { "hgvs": "XP_011539390.1:p.Gly236Ser", "hgvsWellDefined": "XP_011539390.1:p.Gly236Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS554297" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541090.3:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539392.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539392.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS554298" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541091.2:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539393.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539393.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS554299" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_011541092.3:c.796G>A" ], "proteinEffect": { "hgvs": "XP_011539394.1:p.Gly266Ser", "hgvsWellDefined": "XP_011539394.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS554300" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_017000774.2:c.796G>A" ], "proteinEffect": { "hgvs": "XP_016856263.1:p.Gly266Ser", "hgvsWellDefined": "XP_016856263.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS557073" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_017000777.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_016856266.1:p.Gly266Ser", "hgvsWellDefined": "XP_016856266.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS557074" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "G", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "XM_017000778.1:c.796G>A" ], "proteinEffect": { "hgvs": "XP_016856267.1:p.Gly266Ser", "hgvsWellDefined": "XP_016856267.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS557075" }, { "@id": "http://reg.genome.network/allele/PA915977929", "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "NM_015215.4:c.796G>A" ], "proteinEffect": { "hgvs": "NP_056030.1:p.Gly266Ser", "hgvsWellDefined": "NP_056030.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS668684", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000303635.12:c.796G>A" }, "RefSeq": { "hgvs": "NM_015215.4:c.796G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000306522.6:p.Gly266Ser" }, "RefSeq": { "hgvs": "NP_056030.1:p.Gly266Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2827499264", "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "G", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "NM_001349608.2:c.706G>A" ], "proteinEffect": { "hgvs": "NP_001336537.1:p.Gly236Ser", "hgvsWellDefined": "NP_001336537.1:p.Gly236Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688033" }, { "@id": "http://reg.genome.network/allele/PA2827500140", "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "NM_001349609.2:c.796G>A" ], "proteinEffect": { "hgvs": "NP_001336538.1:p.Gly266Ser", "hgvsWellDefined": "NP_001336538.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688034" }, { "@id": "http://reg.genome.network/allele/PA2827500994", "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "NM_001349610.2:c.796G>A" ], "proteinEffect": { "hgvs": "NP_001336539.1:p.Gly266Ser", "hgvsWellDefined": "NP_001336539.1:p.Gly266Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688035" }, { "@id": "http://reg.genome.network/allele/PA2827501851", "coordinates": [ { "allele": "A", "end": 803, "referenceAllele": "G", "start": 802 } ], "gene": "http://reg.genome.network/gene/GN018806", "geneNCBI_id": 23261, "geneSymbol": "CAMTA1", "hgvs": [ "NM_001349612.2:c.706G>A" ], "proteinEffect": { "hgvs": "NP_001336541.1:p.Gly236Ser", "hgvsWellDefined": "NP_001336541.1:p.Gly236Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS688036" } ], "type": "nucleotide" }