Canonical Allele Identifier: PA2825851160
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1420662
ClinVar RCV Id: RCV001914439

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136272.1:p.Phe2897Leu
CA364384196
NM_001142800.2:c.8691T>A
CA364384197
NM_001142800.2:c.8691T>G
CA364384202
NM_001142800.2:c.8689T>C