Allele Registry

Canonical Allele Identifier: PA2580188847

Gene: EYS HGNC NCBI

ClinVar RCV:

RCV002603841

ClinVar Variation:

1919292

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278938.1:p.Gly2186Ala	CA140278469 NM_001292009.1:c.6557G>C