Canonical Allele Identifier: PA645462636
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 357732
ClinVar RCV Id: RCV000284388 RCV000914157 RCV001074467 RCV001277010
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Ile680Thr
CA3877329
NM_001142800.2:c.2039T>C