Canonical Allele Identifier: PA199163
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 189230
ClinVar RCV Id: RCV000177524 RCV000169660 RCV001075403 RCV001376308 RCV001723741 RCV003895170
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Cys2139Tyr
CA199162
NM_001142800.2:c.6416G>A