Canonical Allele Identifier: PA1139698872
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 941552
ClinVar RCV Id: RCV001211354

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Cys2920Arg
CA364384188
NM_001292009.1:c.8758T>C