Canonical Allele Identifier: PA916018472
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 357721
ClinVar RCV Id: RCV000309985 RCV000929860
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Cys992Phe
CA3877230
NM_001292009.1:c.2975G>T