Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.73641201A>G	CA1715706	ALMS1P1,NAT8	c.428T>C (p.Phe143Ser) n.119A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641201A>C	CA347287371	ALMS1P1,NAT8	c.428T>G (p.Phe143Cys) n.119A>C	dbSNP

Number of alleles fetched