Canonical Allele Identifier: PA2580188819
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 2166043
ClinVar RCV Id: RCV003090294

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Cys2130Ser
CA140296091
NM_001292009.1:c.6389G>C
CA364391213
NM_001292009.1:c.6388T>A