ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.30308257C>G
CA412546472
NR0B1
c.1107G>C (p.Trp369Cys)
c.222G>C (p.Trp74Cys)
dbSNP
gnomAD v4
X
g.30308257C>T
CA255617
NR0B1
c.1107G>A (p.Trp369Ter)
c.222G>A (p.Trp74Ter)
ClinVar
dbSNP
Number of alleles fetched
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