Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38485838C>TCA024494RYR1c.5183C>T (p.Ser1728Phe)
c.5180C>T (p.Ser1727Phe)
n.5266C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38485838C=CA2335046271RYR1c.5183C= (p.Ser1728=)
c.5180C= (p.Ser1727=)
n.5266C=
 dbSNP

Number of alleles fetched