Allele Registry

Canonical Allele Identifier: PA645510236

Gene: EYS HGNC NCBI

ClinVar RCV:

RCV000504836

RCV001580505

RCV002524411

ClinVar Variation:

438203

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136272.1:p.Cys2108Tyr	CA3876928 NM_001142800.2:c.6323G>A