ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.30308773G>A
CA327976111
NR0B1
c.591C>T (p.Tyr197=)
dbSNP
X
g.30308773G>T
CA255635
NR0B1
c.591C>A (p.Tyr197Ter)
ClinVar
dbSNP
Number of alleles fetched
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