ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.71719676A>T
CA813670517
CARTPT
c.160-204A>T (n.160-204A>T)
n.98A>T
dbSNP
gnomAD v4
5
g.71719676A>G
CA120740088
CARTPT
c.160-204A>G (n.160-204A>G)
n.98A>G
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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