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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.147381399C>A
CA2602310408
dbSNP
gnomAD v3
gnomAD v4
X
g.147381401T>G
CA2824073485
X
g.147381409T>C
CA2464252736
dbSNP
X
g.147381409T=
CA2464252735
X
g.147381414G>T
CA2739206689
dbSNP
X
g.147381428G=
CA2464252737
X
g.147381428G>T
CA872754600
dbSNP
X
g.147381429C=
CA2464252738
X
g.147381429C>T
CA872754603
dbSNP
X
g.147381432A=
CA2464252739
X
g.147381432A>G
CA872754604
dbSNP
X
g.147381437T>C
CA872754605
dbSNP
gnomAD v3
gnomAD v4
X
g.147381437T=
CA2464252740
X
g.147381441A=
CA2464252741
X
g.147381441A>G
CA2464252742
dbSNP
X
g.147381442_147381446delinsATTAT
CA2464252743
X
g.147381445_147381448del
CA645003747
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.147381446T>G
CA336918284
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.147381446T=
CA2464252744
X
g.147381453G>A
CA1138252000
dbSNP
gnomAD v3
gnomAD v4
X
g.147381453G=
CA2464252745
X
g.147381454G>T
CA658555197
COSMIC
X
g.147381457C=
CA2464252746
X
g.147381457C>T
CA336918285
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.147381458G>A
CA336918286
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.147381458G>C
CA2464252748
dbSNP
X
g.147381458G=
CA2464252747
X
g.147381458G>T
CA1138252001
dbSNP
gnomAD v3
gnomAD v4
X
g.147381459G>A
CA2464252750
dbSNP
X
g.147381459G=
CA2464252749
X
g.147381460C=
CA2464252751
X
g.147381460C>T
CA2464252752
dbSNP
X
g.147381463G>A
CA336918287
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.147381463G=
CA2464252753
X
g.147381467G>A
CA336918288
dbSNP
gnomAD v3
gnomAD v4
X
g.147381467G=
CA2464252754
X
g.147381467G>T
CA336918289
dbSNP
X
g.147381468T>C
CA872754616
dbSNP
gnomAD v3
gnomAD v4
X
g.147381468T=
CA2464252755
X
g.147381471G>A
CA2464252757
dbSNP
X
g.147381471G=
CA2464252756
X
g.147381474G=
CA2464252758
X
g.147381474G>T
CA2464252759
dbSNP
X
g.147381481T>C
CA336918290
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.147381481T=
CA2464252760
X
g.147381483T>C
CA336918291
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.147381483T=
CA2464252761
X
g.147381485T>A
CA336918292
dbSNP
X
g.147381485T=
CA2464252762
X
g.147381486G>A
CA2464252764
dbSNP
X
g.147381486G=
CA2464252763
X
g.147381487C>A
CA336918293
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.147381487C=
CA2464252765
X
g.147381488A=
CA2464252766
X
g.147381488A>C
CA336918294
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.147381488A>G
CA2464252767
dbSNP
X
g.147381498A=
CA2464252768
X
g.147381498A>G
CA872754625
dbSNP
Number of alleles fetched
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