ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Gene: PHEX
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000368682.4:p.Tyr593Ter
ENST00000379374.5:c.1778_1779insAAAT
ENST00000379374.5:c.1778_1779insAAT
ENST00000379374.5:c.1779T>A
ENST00000379374.5:c.1779T>G