Canonical Allele Identifier: PA1139698851
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 834264
ClinVar RCV Id: RCV001034911

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Ser2849del
CA916082857
NM_001292009.1:c.8546_8548del