{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA324371", "communityStandardTitle": [ "NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210412[alleleid]", "alleleId": 210412, "preferredName": "NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212860", "RCV": [ "RCV000231839", "RCV000514877", "RCV001526851", "RCV002310759", "RCV002517167", "RCV002277461", "RCV003401060" ], "variationId": 212860 } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.43060481G>A?assembly=hg38", "id": "chr21:g.43060481G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/117687681", "rs": 117687681 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/21-43060481-G-A?dataset=gnomad_r3", "id": "21-43060481-G-A", "variant": "21:43060481 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/21-43060481-G-A?dataset=gnomad_r4", "id": "21-43060481-G-A", "variant": "21:43060481 G / A" } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "A", "end": 43060481, "referenceAllele": "G", "start": 43060480 } ], "hgvs": [ "NC_000021.9:g.43060481G>A", "CM000683.2:g.43060481G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000069" }, { "coordinates": [ { "allele": "T", "end": 20450, "referenceAllele": "C", "start": 20449 } ], "hgvs": [ "NG_008938.1:g.20450C>T", "LRG_777:g.20450C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001316" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.8:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000381231.4:p.Arg369Cys", "hgvsWellDefined": "ENSP00000381231.4:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS753730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.1105C>T" }, "RefSeq": { "hgvs": "NM_000071.3:c.1105C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Arg369Cys" }, "RefSeq": { "hgvs": "NP_000062.1:p.Arg369Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 1343, "referenceAllele": "C", "start": 1342 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000352178.9:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000344460.5:p.Arg369Cys", "hgvsWellDefined": "ENSP00000344460.5:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS262839" }, { "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000359624.7:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000352643.3:p.Arg369Cys", "hgvsWellDefined": "ENSP00000352643.3:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS264850" }, { "coordinates": [ { "allele": "T", "end": 1213, "referenceAllele": "C", "start": 1212 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398158.5:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000381225.1:p.Arg369Cys", "hgvsWellDefined": "ENSP00000381225.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS278160" }, { "coordinates": [ { "allele": "T", "end": 1365, "referenceAllele": "C", "start": 1364 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000398165.7:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000381231.3:p.Arg369Cys", "hgvsWellDefined": "ENSP00000381231.3:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS278163" }, { "coordinates": [ { "allele": "T", "end": 66, "referenceAllele": "C", "start": 65 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000430013.1:c.66C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS290940" }, { "coordinates": [ { "allele": "T", "end": 1416, "referenceAllele": "C", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000461686.5:n.1416C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306139" }, { "coordinates": [ { "allele": "T", "end": 40, "referenceAllele": "C", "start": 39 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000491776.1:n.40C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS329303" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "ENST00000496485.1:n.605C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS332938" }, { "@id": "http://reg.genome.network/allele/PA096125", "coordinates": [ { "allele": "T", "end": 1350, "referenceAllele": "C", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.2:c.1105C>T", "LRG_777t1:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Arg369Cys", "hgvsWellDefined": "NP_000062.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006135" }, { "@id": "http://reg.genome.network/allele/PA2826133007", "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.1:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Arg369Cys", "hgvsWellDefined": "NP_001171479.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS015804" }, { "@id": "http://reg.genome.network/allele/PA2826133683", "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.1:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Arg369Cys", "hgvsWellDefined": "NP_001171480.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS015805" }, { "coordinates": [ { "allele": "T", "end": 1472, "referenceAllele": "C", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529773.1:c.1156C>T" ], "proteinEffect": { "hgvs": "XP_011528075.1:p.Arg386Cys", "hgvsWellDefined": "XP_011528075.1:p.Arg386Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096838" }, { "coordinates": [ { "allele": "T", "end": 1472, "referenceAllele": "C", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.1:c.1156C>T" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Arg386Cys", "hgvsWellDefined": "XP_011528076.1:p.Arg386Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096839" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529775.1:c.1156C>T" ], "proteinEffect": { "hgvs": "XP_011528077.1:p.Arg386Cys", "hgvsWellDefined": "XP_011528077.1:p.Arg386Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096840" }, { "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529776.1:c.1156C>T" ], "proteinEffect": { "hgvs": "XP_011528078.1:p.Arg386Cys", "hgvsWellDefined": "XP_011528078.1:p.Arg386Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096841" }, { "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.1:c.1105C>T" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Arg369Cys", "hgvsWellDefined": "XP_011528079.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096842" }, { "coordinates": [ { "allele": "T", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529778.1:c.1105C>T" ], "proteinEffect": { "hgvs": "XP_011528080.1:p.Arg369Cys", "hgvsWellDefined": "XP_011528080.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096843" }, { "coordinates": [ { "allele": "T", "end": 1346, "referenceAllele": "C", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529779.1:c.1105C>T" ], "proteinEffect": { "hgvs": "XP_011528081.1:p.Arg369Cys", "hgvsWellDefined": "XP_011528081.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096844" }, { "coordinates": [ { "allele": "T", "end": 1358, "referenceAllele": "C", "start": 1357 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529781.1:c.1105C>T" ], "proteinEffect": { "hgvs": "XP_011528083.1:p.Arg369Cys", "hgvsWellDefined": "XP_011528083.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096845" }, { "coordinates": [ { "allele": "T", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529782.1:c.1105C>T" ], "proteinEffect": { "hgvs": "XP_011528084.1:p.Arg369Cys", "hgvsWellDefined": "XP_011528084.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096846" }, { "coordinates": [ { "allele": "T", "end": 1383, "referenceAllele": "C", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.1:c.790C>T" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Arg264Cys", "hgvsWellDefined": "XP_011528085.1:p.Arg264Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096847" }, { "coordinates": [ { "allele": "T", "end": 1383, "referenceAllele": "C", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529784.1:c.790C>T" ], "proteinEffect": { "hgvs": "XP_011528086.1:p.Arg264Cys", "hgvsWellDefined": "XP_011528086.1:p.Arg264Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS096848" }, { "@id": "http://reg.genome.network/allele/PA2826133007", "coordinates": [ { "allele": "T", "end": 1357, "referenceAllele": "C", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.2:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Arg369Cys", "hgvsWellDefined": "NP_001171479.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511745" }, { "@id": "http://reg.genome.network/allele/PA2826133683", "coordinates": [ { "allele": "T", "end": 1357, "referenceAllele": "C", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.2:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Arg369Cys", "hgvsWellDefined": "NP_001171480.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511746" }, { "@id": "http://reg.genome.network/allele/PA916024439", "coordinates": [ { "allele": "T", "end": 1351, "referenceAllele": "C", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.1:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Arg369Cys", "hgvsWellDefined": "NP_001307227.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS513529" }, { "@id": "http://reg.genome.network/allele/PA2827070590", "coordinates": [ { "allele": "T", "end": 1416, "referenceAllele": "C", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001321072.1:c.790C>T" ], "proteinEffect": { "hgvs": "NP_001308001.1:p.Arg264Cys", "hgvsWellDefined": "NP_001308001.1:p.Arg264Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514014" }, { "coordinates": [ { "allele": "T", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529774.2:c.1156C>T" ], "proteinEffect": { "hgvs": "XP_011528076.1:p.Arg386Cys", "hgvsWellDefined": "XP_011528076.1:p.Arg386Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS549665" }, { "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529777.2:c.1105C>T" ], "proteinEffect": { "hgvs": "XP_011528079.1:p.Arg369Cys", "hgvsWellDefined": "XP_011528079.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS549666" }, { "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "C", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_011529783.2:c.790C>T" ], "proteinEffect": { "hgvs": "XP_011528085.1:p.Arg264Cys", "hgvsWellDefined": "XP_011528085.1:p.Arg264Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS549667" }, { "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_017028491.2:c.1105C>T" ], "proteinEffect": { "hgvs": "XP_016883980.1:p.Arg369Cys", "hgvsWellDefined": "XP_016883980.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS578228" }, { "coordinates": [ { "allele": "T", "end": 2039, "referenceAllele": "C", "start": 2038 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452136.1:c.1156C>T" ], "proteinEffect": { "hgvs": "XP_024307904.1:p.Arg386Cys", "hgvsWellDefined": "XP_024307904.1:p.Arg386Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS585638" }, { "coordinates": [ { "allele": "T", "end": 2039, "referenceAllele": "C", "start": 2038 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452137.1:c.1156C>T" ], "proteinEffect": { "hgvs": "XP_024307905.1:p.Arg386Cys", "hgvsWellDefined": "XP_024307905.1:p.Arg386Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS585639" }, { "coordinates": [ { "allele": "T", "end": 2083, "referenceAllele": "C", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452138.1:c.790C>T" ], "proteinEffect": { "hgvs": "XP_024307906.1:p.Arg264Cys", "hgvsWellDefined": "XP_024307906.1:p.Arg264Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS585640" }, { "coordinates": [ { "allele": "T", "end": 2077, "referenceAllele": "C", "start": 2076 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452139.1:c.790C>T" ], "proteinEffect": { "hgvs": "XP_024307907.1:p.Arg264Cys", "hgvsWellDefined": "XP_024307907.1:p.Arg264Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS585641" }, { "coordinates": [ { "allele": "T", "end": 1980, "referenceAllele": "C", "start": 1979 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XM_024452140.1:c.790C>T" ], "proteinEffect": { "hgvs": "XP_024307908.1:p.Arg264Cys", "hgvsWellDefined": "XP_024307908.1:p.Arg264Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS585642" }, { "coordinates": [ { "allele": "T", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754915.1:n.1476C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600857" }, { "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754916.2:n.1255C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600858" }, { "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_001754917.2:n.1255C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600859" }, { "coordinates": [ { "allele": "T", "end": 2076, "referenceAllele": "C", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "XR_002958634.1:n.2076C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604759" }, { "@id": "http://reg.genome.network/allele/PA096125", "coordinates": [ { "allele": "T", "end": 1255, "referenceAllele": "C", "start": 1254 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_000071.3:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_000062.1:p.Arg369Cys", "hgvsWellDefined": "NP_000062.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674686", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000398165.8:c.1105C>T" }, "RefSeq": { "hgvs": "NM_000071.3:c.1105C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000381231.4:p.Arg369Cys" }, "RefSeq": { "hgvs": "NP_000062.1:p.Arg369Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA2826133683", "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178009.3:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001171480.1:p.Arg369Cys", "hgvsWellDefined": "NP_001171480.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678912" }, { "@id": "http://reg.genome.network/allele/PA2826133007", "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001178008.3:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001171479.1:p.Arg369Cys", "hgvsWellDefined": "NP_001171479.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS713548" }, { "@id": "http://reg.genome.network/allele/PA916024439", "coordinates": [ { "allele": "T", "end": 1363, "referenceAllele": "C", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN001550", "geneNCBI_id": 875, "geneSymbol": "CBS", "hgvs": [ "NM_001320298.2:c.1105C>T" ], "proteinEffect": { "hgvs": "NP_001307227.1:p.Arg369Cys", "hgvsWellDefined": "NP_001307227.1:p.Arg369Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS717765" } ], "type": "nucleotide" }