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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.229432787G>A
CA084550
ACTA1
c.223C>T (p.His75Tyr)
c.88C>T (p.His30Tyr)
ClinVar
dbSNP
1
g.229432787G>T
CA38816563
ACTA1
c.223C>A (p.His75Asn)
c.88C>A (p.His30Asn)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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