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ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.43419939C>A
CA199549
SIK1
c.1039G>T (p.Glu347Ter)
c.972+295G>T (n.972+295G>T)
ClinVar
dbSNP
21
g.43419939C=
CA2391217353
SIK1
c.1039G= (p.Glu347=)
c.972+295G= (n.972+295G=)
dbSNP
Number of alleles fetched
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