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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
7
g.107661807T>A
CA368845292
SLC26A4
c.164+2T>A (n.164+2T>A)
ClinVar
dbSNP
gnomAD v4
7
g.107661807T>C
CA261417
SLC26A4
c.164+2T>C (n.164+2T>C)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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