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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.17055068C>A
CA2545454626
Y
g.17055071A=
CA2470821486
Y
g.17055071A>G
CA880355732
dbSNP
gnomAD v3
gnomAD v4
Y
g.17055078C>T
CA1139487222
gnomAD v3
gnomAD v4
Y
g.17055088C>A
CA2499544475
Y
g.17055089T>C
CA1139487231
gnomAD v3
gnomAD v4
Y
g.17055090C=
CA2470821487
Y
g.17055090C>G
CA337278186
dbSNP
gnomAD v3
gnomAD v4
Y
g.17055091G>A
CA1139487239
gnomAD v3
gnomAD v4
Y
g.17055093G>T
CA1139487244
gnomAD v3
gnomAD v4
Y
g.17055094A>T
CA2555708395
Y
g.17055097C>T
CA2519497197
Y
g.17055106A=
CA2470821488
Y
g.17055106A>G
CA337278189
dbSNP
Y
g.17055118A>T
CA2515643431
Y
g.17055121C>A
CA2506027886
Y
g.17055123_17055124delinsGA
CA2470821489
Y
g.17055134dup
CA880355734
dbSNP
gnomAD v3
gnomAD v4
Y
g.17055133_17055134dup
CA1139487257
dbSNP
gnomAD v3
gnomAD v4
Y
g.17055134del
CA1139487260
dbSNP
gnomAD v3
gnomAD v4
Y
g.17055143T>C
CA1139487262
dbSNP
gnomAD v3
gnomAD v4
Y
g.17055143T=
CA2470821490
Y
g.17055145G=
CA2470821491
Y
g.17055145G>T
CA1139487266
dbSNP
gnomAD v3
gnomAD v4
Y
g.17055153T>C
CA2519495504
Y
g.17055164A>C
CA1139487269
gnomAD v3
gnomAD v4
Y
g.17055165C>A
CA1139487280
gnomAD v3
gnomAD v4
Number of alleles fetched
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