Allele Registry

Canonical Allele Identifier: PA916018563

Gene: EYS HGNC NCBI

ClinVar RCV:

RCV000132632

RCV003323413

RCV003888556

ClinVar Variation:

143111

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278938.1:p.Gly2598Asp	CA270063 NM_001292009.1:c.7793G>A