Allele Registry

Canonical Allele Identifier: PA658808025

Gene: EYS HGNC NCBI

ClinVar RCV:

RCV000595158

ClinVar Variation:

498880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136272.1:p.Val2077Ile	CA364391567 NM_001142800.2:c.6229G>A