Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
19	g.38440830G>C	CA405671989	RYR1	c.131G>C (p.Arg44Pro) n.214G>C	ClinVar dbSNP gnomAD v4
19	g.38440830G>A	CA024037	RYR1	c.131G>A (p.Arg44His) n.214G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched