ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.8585349C>T
CA254967
ANOS1
c.774G>A (p.Trp258Ter)
c.771G>A (p.Trp257Ter)
ClinVar
dbSNP
X
g.8585349C>G
CA326069093
ANOS1
c.774G>C (p.Trp258Cys)
c.771G>C (p.Trp257Cys)
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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