ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.152865819G>A
CA415286460
NSDHL
c.544G>A (p.Ala182Thr)
c.592G>A (p.Ala198Thr)
dbSNP
gnomAD v3
gnomAD v4
X
g.152865819G>C
CA255884
NSDHL
c.544G>C (p.Ala182Pro)
c.592G>C (p.Ala198Pro)
ClinVar
dbSNP
Number of alleles fetched
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