Canonical Allele Identifier: PA645510243
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 438209
ClinVar RCV Id: RCV000505047 RCV000670181 RCV001362404 RCV002282186
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Arg2790Gly
CA364385090
NM_001142800.2:c.8368A>G