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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
11
g.5225872A>G
CA10587127
HBB
c.316-146T>C (n.316-146T>C)
n.248-146T>C
c.*132-146T>C (n.*132-146T>C)
ClinVar
dbSNP
11
g.5225872A>C
CA213888
HBB
c.316-146T>G (n.316-146T>G)
n.248-146T>G
c.*132-146T>G (n.*132-146T>G)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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