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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.38506952G>A
CA024952
RYR1
c.8816G>A (p.Arg2939Lys)
c.8813G>A (p.Arg2938Lys)
c.2268G>A
n.8899G>A
ClinVar
dbSNP
gnomAD v4
19
g.38506952G=
CA2335056906
RYR1
c.8816G= (p.Arg2939=)
c.8813G= (p.Arg2938=)
c.2268G=
n.8899G=
dbSNP
Number of alleles fetched
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