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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.54912275C>A
CA260533891
dbSNP
14
g.54912275C=
CA2138244364
14
g.54912275C>T
CA260533893
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912276G>A
CA614284082
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912276G=
CA2138244367
14
g.54912283T>C
CA2801652307
14
g.54912283T>G
CA706944182
dbSNP
gnomAD v3
gnomAD v4
14
g.54912283T=
CA2138244368
14
g.54912289C=
CA2138244370
14
g.54912289C>T
CA260533895
dbSNP
14
g.54912292T>A
CA260533899
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912292T>C
CA260533897
dbSNP
14
g.54912292T=
CA2138244378
14
g.54912295A=
CA2138244380
14
g.54912295A>G
CA614284085
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912296G>A
CA260533901
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912296G=
CA2138244383
14
g.54912297T>C
CA706944194
dbSNP
gnomAD v3
gnomAD v4
14
g.54912297T=
CA2138244385
14
g.54912298A=
CA2138244387
14
g.54912298A>G
CA2138244388
dbSNP
gnomAD v4
14
g.54912301A=
CA2138244390
14
g.54912301A>T
CA706944203
dbSNP
14
g.54912302T>C
CA2729751165
dbSNP
14
g.54912311_54912315delinsCTGAT
CA2138244391
14
g.54912314_54912317del
CA706944212
dbSNP
14
g.54912313G>A
CA260533903
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912313G=
CA2138244394
14
g.54912317G>A
CA2504176294
dbSNP
gnomAD v3
gnomAD v4
14
g.54912319G>A
CA614284086
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912319G=
CA2138244397
14
g.54912321C=
CA2138244399
14
g.54912321C>T
CA706944217
dbSNP
14
g.54912323A=
CA2138244401
14
g.54912323A>G
CA2138244402
dbSNP
14
g.54912325T>C
CA2801652308
14
g.54912329G>A
CA706944221
dbSNP
gnomAD v3
gnomAD v4
14
g.54912329G>C
CA260533905
dbSNP
gnomAD v3
gnomAD v4
14
g.54912329G=
CA2138244404
14
g.54912332G>C
CA260533908
dbSNP
gnomAD v3
gnomAD v4
14
g.54912332G=
CA2138244406
14
g.54912336T>C
CA614284088
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54912336T=
CA2138244408
14
g.54912345C>T
CA2532952977
14
g.54912350G>C
CA2525992726
14
g.54912353T>C
CA963342869
dbSNP
gnomAD v3
gnomAD v4
14
g.54912353T=
CA2138244411
14
g.54912356A=
CA2138244413
14
g.54912356A>T
CA2138244415
dbSNP
14
g.54912356_54912358delinsACC
CA2138244416
Number of alleles fetched
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