Canonical Allele Identifier: PA241010
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 194823
ClinVar RCV Id: RCV000175284 RCV000665715 RCV001161279 RCV001278511 RCV003917623
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Lys938Arg
CA241009
NM_001142800.2:c.2813A>G