Allele Registry

Canonical Allele Identifier: PA916018536

Gene: EYS HGNC NCBI

ClinVar RCV:

RCV000132629

RCV001062126

RCV001075666

RCV001826794

ClinVar Variation:

143108

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278938.1:p.Gly2186Glu	CA270059 NM_001292009.1:c.6557G>A