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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.8182864A>T
CA2562406143
Y
g.8182868G>A
CA337609750
dbSNP
Y
g.8182868G=
CA2469976295
Y
g.8182871T>C
CA2589279520
gnomAD v3
gnomAD v4
Y
g.8182879C>T
CA1138988751
gnomAD v3
gnomAD v4
Y
g.8182883A>C
CA1138988759
gnomAD v3
gnomAD v4
Y
g.8182888G>A
CA2539277775
Y
g.8182894A>G
CA2589279522
gnomAD v3
gnomAD v4
Y
g.8182902A=
CA2469976296
Y
g.8182902A>T
CA337609752
dbSNP
Y
g.8182909A>G
CA2570686638
Y
g.8182915G>A
CA337609753
dbSNP
gnomAD v3
gnomAD v4
Y
g.8182915G=
CA2469976297
Y
g.8182932A=
CA2469976298
Y
g.8182932A>G
CA337609754
dbSNP
gnomAD v3
gnomAD v4
Y
g.8182933_8182934delinsTA
CA2469976299
Y
g.8182934del
CA1138988772
dbSNP
gnomAD v3
gnomAD v4
Y
g.8182934A>G
CA1138988769
gnomAD v3
gnomAD v4
Y
g.8182935T>C
CA337609756
dbSNP
Y
g.8182935T=
CA2469976300
Y
g.8182938T>C
CA2739193524
dbSNP
Y
g.8182943A>G
CA2824538200
Y
g.8182950A>G
CA2548429298
Y
g.8182951C>A
CA337609758
dbSNP
gnomAD v3
gnomAD v4
Y
g.8182951C=
CA2469976301
Y
g.8182951C>T
CA1138988804
dbSNP
gnomAD v3
gnomAD v4
Y
g.8182952G>A
CA1138988809
gnomAD v3
gnomAD v4
Y
g.8182953C>A
CA2469976303
dbSNP
Y
g.8182953C=
CA2469976302
Y
g.8182953C>G
CA337609760
dbSNP
gnomAD v3
gnomAD v4
Y
g.8182953C>T
CA2469976304
dbSNP
Y
g.8182954T>C
CA2589279524
gnomAD v3
gnomAD v4
Y
g.8182961del
CA2571591844
Number of alleles fetched
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