Canonical Allele Identifier: PA916018452
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 357732
ClinVar RCV Id: RCV000284388 RCV000914157 RCV001074467 RCV001277010
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Ile680Thr
CA3877329
NM_001292009.1:c.2039T>C