Canonical Allele Identifier: PA147167
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 93620
ClinVar RCV Id: RCV000079545 RCV000288760 RCV000609435 RCV001522330 RCV003888432
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Arg2326Gln
CA147166
NM_001142800.2:c.6977G>A