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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
Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
4
g.99353192T>C
CA1479968062
dbSNP
4
g.99353192T=
CA1479968061
4
g.99353194T>G
CA1065917740
dbSNP
gnomAD v3
gnomAD v4
4
g.99353194T=
CA1479968063
4
g.99353195G=
CA1479968064
4
g.99353195G>T
CA101676751
dbSNP
gnomAD v3
gnomAD v4
4
g.99353197T>C
CA1479968066
dbSNP
4
g.99353197T=
CA1479968065
4
g.99353199G>C
CA2523252397
4
g.99353201T>A
CA800726049
dbSNP
gnomAD v3
gnomAD v4
4
g.99353201T=
CA1479968067
4
g.99353203C=
CA1479968068
4
g.99353203C>T
CA800726051
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.99353205G>A
CA1479968069
dbSNP
4
g.99353205G=
CA1479968070
4
g.99353206C>A
CA800726055
dbSNP
gnomAD v3
gnomAD v4
4
g.99353206C=
CA1479968071
4
g.99353206C>T
CA101676757
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.99353207A=
CA1479968072
4
g.99353207A>G
CA800726061
dbSNP
gnomAD v3
gnomAD v4
4
g.99353208C>A
CA1479968074
dbSNP
4
g.99353208C=
CA1479968073
4
g.99353208C>T
CA553104102
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.99353209T>C
CA800726064
dbSNP
gnomAD v3
gnomAD v4
4
g.99353209T=
CA1479968075
4
g.99353210C=
CA1479968076
4
g.99353210C>G
CA1479968077
dbSNP
4
g.99353211T>C
CA101676764
dbSNP
4
g.99353211T=
CA1479968078
4
g.99353214T>C
CA553104103
dbSNP
gnomAD v2
4
g.99353214T=
CA1479968079
4
g.99353216T>C
CA800726069
dbSNP
gnomAD v3
gnomAD v4
4
g.99353216T=
CA1479968080
4
g.99353217T>A
CA800726074
dbSNP
4
g.99353217T=
CA1479968081
4
g.99353222G>A
CA1065917748
dbSNP
gnomAD v3
gnomAD v4
4
g.99353222G=
CA1479968082
4
g.99353223C=
CA1479968083
4
g.99353223C>G
CA1479968084
dbSNP
4
g.99353225G>C
CA2706759181
dbSNP
4
g.99353231_99353233delinsCAG
CA1479968085
4
g.99353233_99353234del
CA800726079
dbSNP
gnomAD v3
gnomAD v4
4
g.99353233G>C
CA2762793493
4
g.99353234A=
CA1479968086
4
g.99353234A>C
CA1479968087
dbSNP
4
g.99353235del
CA2571646477
4
g.99353237C>A
CA2504508749
4
g.99353238C=
CA1479968088
4
g.99353238C>T
CA800726084
dbSNP
4
g.99353239C=
CA1479968089
Number of alleles fetched
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