Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.229432787G>A	CA084550	ACTA1	c.223C>T (p.His75Tyr) c.88C>T (p.His30Tyr)	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