Canonical Allele Identifier: PA645463063
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 425384
ClinVar RCV Id: RCV000488090 RCV001073586 RCV001161045 RCV003144285 RCV003932793
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Ser1915Gly
CA3876985
NM_001142800.2:c.5743A>G