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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.201077915C>T
CA004021
CACNA1S
c.1583G>A (p.Arg528His)
c.*746G>A (n.*746G>A)
ClinVar
dbSNP
gnomAD v3
gnomAD v4
1
g.201077915C>A
CA35978916
CACNA1S
c.1583G>T (p.Arg528Leu)
c.*746G>T (n.*746G>T)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Showing alleles 1 - 2 from query results
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