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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
19
g.35848318C>A
CA250111
NPHS1
c.1250G>T (p.Cys417Phe)
n.257G>T
ClinVar
dbSNP
19
g.35848318C>T
CA405405349
NPHS1
c.1250G>A (p.Cys417Tyr)
n.257G>A
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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