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: EYS
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Ser2080Tyr
CA364391544
NM_001292009.1:c.6239C>A