Canonical Allele Identifier: PA916018512
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 167050
ClinVar RCV Id: RCV000153211 RCV000382484 RCV001073752 RCV001274970
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Thr1825Asn
CA233962
NM_001292009.1:c.5474C>A