ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.77048174T>A
CA444714063
AGGF1
c.1215T>A (p.Ile405=)
c.1080T>A (p.Ile360=)
dbSNP
gnomAD v4
5
g.77048174T>C
CA3314398
AGGF1
c.1215T>C (p.Ile405=)
c.1080T>C (p.Ile360=)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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