Canonical Allele Identifier: PA645463236
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 252538
ClinVar RCV Id: RCV000239188 RCV000667682 RCV000757241 RCV001164472 RCV003888653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Ala2808Thr
CA3876710
NM_001142800.2:c.8422G>A