Canonical Allele Identifier: PA2499246695
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1041288
ClinVar RCV Id: RCV001345071

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Cys2128Tyr
CA140296092
NM_001292009.1:c.6383G>A