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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.16449074G>C
CA1139419366
gnomAD v3
gnomAD v4
Y
g.16449078A>G
CA1139419367
gnomAD v3
gnomAD v4
Y
g.16449079T>C
CA1139419372
gnomAD v3
gnomAD v4
Y
g.16449080G>A
CA2520481713
Y
g.16449082A=
CA2470781132
Y
g.16449088dup
CA1139419407
dbSNP
gnomAD v3
gnomAD v4
Y
g.16449091C>A
CA2533152994
Y
g.16449094T>G
CA880360141
dbSNP
Y
g.16449094T=
CA2470781133
Y
g.16449095A=
CA2470781134
Y
g.16449095A>G
CA337208799
dbSNP
Y
g.16449096T>C
CA1139419408
gnomAD v3
gnomAD v4
Y
g.16449100C>T
CA2505323264
Y
g.16449101C>T
CA2522926378
Y
g.16449105C>T
CA2503596971
Y
g.16449110T>C
CA1139419410
dbSNP
gnomAD v3
gnomAD v4
Y
g.16449110T=
CA2470781135
Y
g.16449126G>A
CA2824982659
Y
g.16449126G>T
CA2530633226
Y
g.16449147G>C
CA880360144
dbSNP
gnomAD v3
gnomAD v4
Y
g.16449147G=
CA2470781136
Y
g.16449148A>G
CA2565579291
Y
g.16449149C>G
CA1139419414
gnomAD v3
gnomAD v4
Y
g.16449155G>T
CA2562071423
Y
g.16449158G>C
CA1139419417
gnomAD v3
gnomAD v4
Y
g.16449161C>A
CA1139419432
dbSNP
gnomAD v3
gnomAD v4
Y
g.16449161C=
CA2470781137
Y
g.16449162T>G
CA337208808
dbSNP
gnomAD v3
gnomAD v4
Y
g.16449162T=
CA2470781138
Number of alleles fetched
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