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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.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
X
g.43755295A>G
CA1132676624
gnomAD v3
gnomAD v4
X
g.43755298C=
CA2426677437
X
g.43755298C>T
CA2426677438
dbSNP
gnomAD v3
gnomAD v4
X
g.43755300A=
CA2426677439
X
g.43755300A>G
CA2426677440
dbSNP
X
g.43755303T>G
CA329467844
dbSNP
gnomAD v3
gnomAD v4
X
g.43755303T=
CA2426677441
X
g.43755304T>C
CA329467845
dbSNP
X
g.43755304T=
CA2426677442
X
g.43755306A>G
CA2594029115
gnomAD v3
gnomAD v4
X
g.43755308A=
CA2426677443
X
g.43755308A>T
CA2426677444
dbSNP
X
g.43755321C>A
CA1132676629
dbSNP
gnomAD v3
gnomAD v4
X
g.43755321C=
CA2426677445
X
g.43755325C>A
CA2528841584
X
g.43755328A=
CA2426677446
X
g.43755328A>G
CA2426677447
dbSNP
X
g.43755329G=
CA2426677448
X
g.43755333_43755334insAAAAA
CA2426677449
dbSNP
X
g.43755340_43755345dup
CA875539073
dbSNP
gnomAD v3
gnomAD v4
X
g.43755331A=
CA2426677450
X
g.43755331A>C
CA1132676640
dbSNP
gnomAD v3
gnomAD v4
X
g.43755334C>A
CA1132676647
gnomAD v3
gnomAD v4
X
g.43755336A=
CA2426677451
X
g.43755336A>G
CA641639187
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755340del
CA2820652203
X
g.43755340C>A
CA641639188
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755340C=
CA2426677453
X
g.43755340_43755341delinsCA
CA2426677452
X
g.43755341A=
CA2426677454
X
g.43755341A>G
CA329467847
dbSNP
X
g.43755348dup
CA329467846
dbSNP
gnomAD v3
gnomAD v4
X
g.43755348del
CA875539079
dbSNP
gnomAD v3
gnomAD v4
X
g.43755346A=
CA2426677455
X
g.43755346A>C
CA2426677456
dbSNP
X
g.43755348A=
CA2426677457
X
g.43755348A>T
CA641639190
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.43755349T>C
CA2426677459
dbSNP
X
g.43755349T=
CA2426677458
X
g.43755350C=
CA2426677460
X
g.43755350C>T
CA329467848
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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