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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.38444212G>A
CA066494
RYR1
c.488G>A (p.Arg163His)
n.571G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
19
g.38444212G>T
CA024467
RYR1
c.488G>T (p.Arg163Leu)
n.571G>T
ClinVar
dbSNP
Number of alleles fetched
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