Canonical Allele Identifier: PA147168
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 93620
ClinVar RCV Id: RCV000079545 RCV000288760 RCV000609435 RCV001522330 RCV003888432
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Arg2326Gln
CA147166
NM_001292009.1:c.6977G>A