ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.30308222A>T
CA255638
NR0B1
c.1142T>A (p.Leu381His)
c.257T>A (p.Leu86His)
ClinVar
dbSNP
X
g.30308222A>G
CA412546292
NR0B1
c.1142T>C (p.Leu381Pro)
c.257T>C (p.Leu86Pro)
ClinVar
dbSNP
Number of alleles fetched
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