Canonical Allele Identifier: PA2825850630
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 2048552
ClinVar RCV Id: RCV002909257 RCV002931935
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Tyr2280Cys
CA140266927
NM_001142800.2:c.6839A>G