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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.38494579G>A
CA024603
RYR1
c.6502G>A (p.Val2168Met)
c.6499G>A (p.Val2167Met)
n.6585G>A
ClinVar
dbSNP
gnomAD v4
COSMIC
19
g.38494579G>C
CA405664337
RYR1
c.6502G>C (p.Val2168Leu)
c.6499G>C (p.Val2167Leu)
n.6585G>C
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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