Canonical Allele Identifier: PA2741853041
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 3027761
ClinVar RCV Id: RCV003891015

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Asp2896His
CA364384345
NM_001292009.1:c.8686G>C