Canonical Allele Identifier: PA1139698608
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 966550
ClinVar RCV Id: RCV001241264 RCV001280433 RCV003887953
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Arg2137His
CA140296089
NM_001292009.1:c.6410G>A