ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.43949934G>C
CA16608479
NDP,NDP-AS1
c.267C>G (p.Phe89Leu)
n.311C>G
n.203G>C
ClinVar
dbSNP
X
g.43949934G>A
CA516139492
NDP,NDP-AS1
c.267C>T (p.Phe89=)
n.311C>T
n.203G>A
dbSNP
gnomAD v4
Number of alleles fetched
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