ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.67724556T>A
CA252090
GPHN,RDH12
c.152T>A (p.Ile51Asn)
c.1313-10639T>A (n.1313-10639T>A)
ClinVar
dbSNP
14
g.67724556T>C
CA390148132
GPHN,RDH12
c.152T>C (p.Ile51Thr)
c.1313-10639T>C (n.1313-10639T>C)
ClinVar
dbSNP
Number of alleles fetched
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