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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.38499655G>A
CA024690
RYR1
c.7048G>A (p.Ala2350Thr)
c.7045G>A (p.Ala2349Thr)
c.500G>A
n.7131G>A
ClinVar
dbSNP
gnomAD v2
gnomAD v4
19
g.38499655G=
CA2335052855
RYR1
c.7048G= (p.Ala2350=)
c.7045G= (p.Ala2349=)
c.500G=
n.7131G=
dbSNP
Number of alleles fetched
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