Canonical Allele Identifier: PA2580188937
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1696175
ClinVar RCV Id: RCV002266319
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Val2542Phe
CA364385409
NM_001292009.1:c.7624G>T