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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
20
g.45925376T>C
CA14776160
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
20
g.45925376T>A
CA636030864
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
20
g.45925376T>G
CA744853325
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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