ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825851097
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
834264
ClinVar RCV Id:
RCV001034911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Ser2828del
CA916082857
NM_001142800.2:c.8483_8485del