Canonical Allele Identifier: PA2825851148
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 2127363
ClinVar RCV Id: RCV003055460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Cys2884Ser
CA364384284
NM_001142800.2:c.8651G>C
CA364384287
NM_001142800.2:c.8650T>A