Canonical Allele Identifier: PA916018530
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 438204
ClinVar RCV Id: RCV000505095 RCV001219169 RCV001834630
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Leu2158Pro
CA3876911
NM_001292009.1:c.6473T>C