Allele Registry

Canonical Allele Identifier: PA2499303630

Gene: EYS HGNC NCBI

ClinVar RCV:

RCV001339520

RCV001831056

ClinVar Variation:

1036494

HGVS (amino-acid)	Matching Registered Transcripts
NP_938024.1:p.Glu584Lys	CA3877631 NM_198283.2:c.1750G>A