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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
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.43755190_43755206del
CA2820652200
X
g.43755194T>A
CA2739316910
X
g.43755194T>C
CA329467827
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755194T>G
CA2739316911
X
g.43755194T=
CA2426677400
X
g.43755200C>T
CA2510287054
X
g.43755201T>C
CA329467828
dbSNP
X
g.43755201T=
CA2426677401
X
g.43755205_43755206insCCCCCCCCCCCCCCCCCCCC
CA2820652201
X
g.43755207C>A
CA329467829
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755207C=
CA2426677402
X
g.43755207C>T
CA2426677403
dbSNP
X
g.43755209A>C
CA1132676606
gnomAD v3
gnomAD v4
X
g.43755212A>G
CA2564898701
X
g.43755213G>C
CA875539021
dbSNP
gnomAD v3
gnomAD v4
X
g.43755213G=
CA2426677404
X
g.43755214A=
CA2426677405
X
g.43755214A>G
CA875539024
dbSNP
X
g.43755216A=
CA2426677406
X
g.43755216A>T
CA329467830
dbSNP
X
g.43755219C=
CA2426677407
X
g.43755219C>T
CA875539031
dbSNP
gnomAD v3
gnomAD v4
X
g.43755223T>C
CA875539035
dbSNP
gnomAD v3
gnomAD v4
X
g.43755223T=
CA2426677408
X
g.43755226T>A
CA329467831
dbSNP
X
g.43755226T=
CA2426677409
X
g.43755227C>A
CA2426677411
dbSNP
X
g.43755227C=
CA2426677410
X
g.43755234T>C
CA329467832
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755234T=
CA2426677412
X
g.43755238T>G
CA2426677414
dbSNP
X
g.43755238T=
CA2426677413
X
g.43755241T>C
CA2535497476
X
g.43755242C>T
CA2507587288
X
g.43755243C=
CA2426677415
X
g.43755243C>T
CA329467833
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755244G>A
CA329467834
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755244G=
CA2426677416
X
g.43755251T>C
CA641639180
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755251T=
CA2426677417
X
g.43755252A=
CA2426677418
X
g.43755252A>G
CA329467835
dbSNP
X
g.43755253T>C
CA329467836
dbSNP
gnomAD v3
gnomAD v4
X
g.43755253T=
CA2426677419
X
g.43755259G>A
CA875539052
dbSNP
gnomAD v3
gnomAD v4
X
g.43755259G=
CA2426677420
X
g.43755260C>A
CA641639181
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755260C=
CA2426677421
X
g.43755260C>G
CA329467837
dbSNP
gnomAD v3
gnomAD v4
X
g.43755260C>T
CA2426677422
dbSNP
X
g.43755262T>C
CA329467838
dbSNP
gnomAD v3
gnomAD v4
X
g.43755262T=
CA2426677423
X
g.43755263G>A
CA2503446272
X
g.43755264G>A
CA329467839
dbSNP
X
g.43755264G=
CA2426677424
X
g.43755265C=
CA2426677425
X
g.43755265C>T
CA2426677426
dbSNP
X
g.43755266C=
CA2426677427
X
g.43755266C>T
CA329467840
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755274G>T
CA2544844725
X
g.43755278C=
CA2426677428
X
g.43755278C>T
CA329467841
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755279T>A
CA2547963073
X
g.43755282A=
CA2426677429
X
g.43755282A>G
CA329467842
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755283T>A
CA875539059
dbSNP
gnomAD v3
gnomAD v4
X
g.43755283T>C
CA641639185
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755283T=
CA2426677430
X
g.43755284A=
CA2426677431
X
g.43755284A>G
CA2426677432
dbSNP
X
g.43755287T>C
CA2509434715
X
g.43755288G>A
CA875539067
dbSNP
gnomAD v3
gnomAD v4
X
g.43755288G>C
CA875539068
dbSNP
X
g.43755288G=
CA2426677433
X
g.43755289G>T
CA2820652202
X
g.43755290C=
CA2426677434
X
g.43755290C>G
CA329467843
dbSNP
X
g.43755291T>G
CA2426677435
dbSNP
X
g.43755291T=
CA2426677436
Number of alleles fetched
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