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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.16607704C=
CA2470789751
Y
g.16607704C>T
CA337223901
dbSNP
gnomAD v3
gnomAD v4
Y
g.16607705C>A
CA2549635465
Y
g.16607713T=
CA2470789752
Y
g.16607719dup
CA1139478902
dbSNP
gnomAD v3
gnomAD v4
Y
g.16607720G>C
CA1139478905
gnomAD v3
gnomAD v4
Y
g.16607722G>T
CA2824986764
Y
g.16607723G>A
CA337223907
dbSNP
Y
g.16607723G=
CA2470789753
Y
g.16607724T>C
CA2589311258
gnomAD v3
gnomAD v4
Y
g.16607727C>T
CA2589311260
gnomAD v3
gnomAD v4
Y
g.16607736A>T
CA2571843843
Y
g.16607738G>T
CA2518400606
Y
g.16607743C=
CA2470789754
Y
g.16607743C>T
CA1139478916
dbSNP
gnomAD v3
gnomAD v4
Y
g.16607744G>A
CA1139478919
dbSNP
gnomAD v3
gnomAD v4
Y
g.16607744G>T
CA1139478951
gnomAD v3
gnomAD v4
Y
g.16607746G>T
CA2537204871
Y
g.16607752G>A
CA2824986765
Y
g.16607768T>C
CA1139478967
gnomAD v3
gnomAD v4
Y
g.16607769T>C
CA2531126694
Y
g.16607784G>C
CA658469968
COSMIC
Y
g.16607784G>T
CA2569307321
Y
g.16607790G>A
CA2470789755
dbSNP
Y
g.16607790G=
CA2470789756
Y
g.16607793G>A
CA1139478971
gnomAD v3
gnomAD v4
Y
g.16607798dup
CA2564810963
Y
g.16607802A>T
CA2501478710
Number of alleles fetched
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