Canonical Allele Identifier: PA916018582
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 287296
ClinVar RCV Id: RCV000333936 RCV000665932 RCV000965012 RCV001164471
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Thr2831Ile
CA3876709
NM_001292009.1:c.8492C>T