ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.138465844C>A
CA361097012
EGR1
c.83C>A (p.Thr28Asn)
dbSNP
5
g.138465844C>T
CA128180061
EGR1
c.83C>T (p.Thr28Ile)
dbSNP
gnomAD v4
Number of alleles fetched
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