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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.
ClinGen Allele Registry
Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.43755045A>G
CA2594029108
dbSNP
gnomAD v3
gnomAD v4
X
g.43755048T>A
CA2426677336
dbSNP
X
g.43755048T=
CA2426677337
X
g.43755053T>C
CA641639165
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755053T=
CA2426677338
X
g.43755056T>C
CA2607949923
gnomAD v4
X
g.43755059G>T
CA2567337430
X
g.43755061T>A
CA2426677340
dbSNP
X
g.43755061T=
CA2426677339
X
g.43755062C>T
CA2514935581
X
g.43755067A=
CA2426677341
X
g.43755067A>G
CA2426677342
dbSNP
X
g.43755067A>T
CA329467814
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755070A=
CA2426677343
X
g.43755070A>G
CA2426677344
dbSNP
X
g.43755076C=
CA2426677345
X
g.43755076C>T
CA2426677346
dbSNP
X
g.43755077T>C
CA2820652195
X
g.43755081A=
CA2426677347
X
g.43755081A>T
CA875538965
dbSNP
X
g.43755082T>C
CA875538966
dbSNP
gnomAD v3
gnomAD v4
X
g.43755082T=
CA2426677348
X
g.43755083T>C
CA875538968
dbSNP
gnomAD v3
gnomAD v4
X
g.43755083T=
CA2426677349
X
g.43755084G>A
CA329467815
dbSNP
gnomAD v3
gnomAD v4
X
g.43755084G=
CA2426677350
X
g.43755088C=
CA2426677351
X
g.43755088C>T
CA2426677352
dbSNP
X
g.43755090T>C
CA875538984
dbSNP
X
g.43755090T=
CA2426677353
X
g.43755092C>A
CA2426677355
dbSNP
X
g.43755092C=
CA2426677354
X
g.43755092C>T
CA329467816
dbSNP
X
g.43755096C>A
CA2426677357
dbSNP
X
g.43755096C=
CA2426677356
X
g.43755100A=
CA2426677359
X
g.43755100A>G
CA2426677358
dbSNP
X
g.43755102A=
CA2426677360
X
g.43755102A>C
CA2426677361
dbSNP
X
g.43755110T>C
CA329467817
dbSNP
gnomAD v3
gnomAD v4
X
g.43755110T=
CA2426677362
X
g.43755120A=
CA2426677363
X
g.43755120A>C
CA329467818
dbSNP
gnomAD v3
gnomAD v4
X
g.43755121A>G
CA2820652196
X
g.43755124A=
CA2426677364
X
g.43755124A>G
CA329467819
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755124A>T
CA875538989
dbSNP
gnomAD v3
gnomAD v4
X
g.43755129C=
CA2426677365
X
g.43755129C>T
CA641639167
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755130C=
CA2426677366
X
g.43755130C>T
CA329467820
dbSNP
gnomAD v3
gnomAD v4
X
g.43755131G>A
CA329467821
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755131G=
CA2426677367
X
g.43755132A>G
CA2506355014
X
g.43755134G>A
CA2426677369
dbSNP
X
g.43755134G=
CA2426677368
X
g.43755137C=
CA2426677370
X
g.43755137C>T
CA2426677371
dbSNP
Number of alleles fetched
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