ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.30309255G>C
CA327976490
NR0B1
c.109C>G (p.Gln37Glu)
dbSNP
X
g.30309255G>A
CA255643
NR0B1
c.109C>T (p.Gln37Ter)
ClinVar
dbSNP
Number of alleles fetched
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