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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
14
g.94769173G>A
CA151182
GSC
c.400C>T (p.Gln134Ter)
ClinVar
dbSNP
gnomAD v4
14
g.94769173G>T
CA391148555
GSC
c.400C>A (p.Gln134Lys)
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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