ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.42460031_42460033dup
CA2031936133
PRICKLE1
c.2278_2280dup (p.Asp760_Ser761insAsp)
n.2105_2107dup
dbSNP
12
g.42460031_42460033del
CA6519626
PRICKLE1
c.2278_2280del (p.Asp760del)
n.2105_2107del
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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