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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
Y
g.16965400A=
CA2470814584
Y
g.16965400A>G
CA337268295
dbSNP
Y
g.16965419C=
CA2470814585
Y
g.16965419C>T
CA1139441515
dbSNP
gnomAD v3
gnomAD v4
Y
g.16965438A=
CA2470814586
Y
g.16965438A>G
CA2470814587
dbSNP
Y
g.16965442G=
CA2470814588
Y
g.16965442G>T
CA337268298
dbSNP
Y
g.16965443G>A
CA1139441528
gnomAD v3
gnomAD v4
Y
g.16965448C>T
CA1139441533
gnomAD v3
gnomAD v4
Y
g.16965449C=
CA2470814589
Y
g.16965449C>T
CA337268304
dbSNP
Y
g.16965456G>A
CA1139441537
gnomAD v3
gnomAD v4
Y
g.16965459G>A
CA1139441544
gnomAD v3
gnomAD v4
Y
g.16965463C>A
CA1139441550
dbSNP
gnomAD v3
gnomAD v4
Y
g.16965463C=
CA2470814590
Y
g.16965467A=
CA2470814591
Y
g.16965467A>T
CA1139441554
dbSNP
gnomAD v3
gnomAD v4
Y
g.16965468_16965471delinsTACA
CA2470814592
Y
g.16965469_16965471del
CA1139441559
dbSNP
gnomAD v3
gnomAD v4
Y
g.16965471A=
CA2470814593
Y
g.16965472_16965473insGG
CA1139441576
dbSNP
gnomAD v3
gnomAD v4
Y
g.16965474G>A
CA2550665641
Y
g.16965478G>A
CA2545453225
Y
g.16965480T>C
CA337268308
dbSNP
gnomAD v3
gnomAD v4
Y
g.16965480T=
CA2470814594
Y
g.16965485A=
CA2470814595
Y
g.16965485A>G
CA1139441578
dbSNP
gnomAD v3
gnomAD v4
Y
g.16965486G>A
CA337268313
dbSNP
Y
g.16965486G=
CA2470814596
Y
g.16965486G>T
CA2553021945
Y
g.16965487G>C
CA1139441591
dbSNP
gnomAD v3
gnomAD v4
Y
g.16965487G=
CA2470814597
Y
g.16965499C>T
CA1139441593
gnomAD v3
gnomAD v4
Y
g.16965500G>A
CA337268318
dbSNP
gnomAD v3
gnomAD v4
Y
g.16965500G=
CA2470814598
Number of alleles fetched
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