Canonical Allele Identifier: PA645463427
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 287296
ClinVar RCV Id: RCV000333936 RCV000665932 RCV000965012 RCV001164471
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Thr2810Ile
CA3876709
NM_001142800.2:c.8429C>T