Allele Registry

Canonical Allele Identifier: PA2826817442

Gene: EYS HGNC NCBI

ClinVar RCV:

RCV001339520

RCV001831056

ClinVar Variation:

1036494

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278938.1:p.Glu584Lys	CA3877631 NM_001292009.1:c.1750G>A