Canonical Allele Identifier: PA2573197152
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1482003
ClinVar RCV Id: RCV002025072

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Ser2094Asn
CA364391447
NM_001292009.1:c.6281G>A