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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.38500899G>T
CA405670384
RYR1
c.7523G>T (p.Arg2508Leu)
c.7520G>T (p.Arg2507Leu)
c.975G>T
n.7606G>T
dbSNP
19
g.38500899G>A
CA024821
RYR1
c.7523G>A (p.Arg2508His)
c.7520G>A (p.Arg2507His)
c.975G>A
n.7606G>A
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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