Canonical Allele Identifier: PA2573197418
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 1420662
ClinVar RCV Id: RCV001914439

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Phe2918Leu
CA364384196
NM_001292009.1:c.8754T>A
CA364384197
NM_001292009.1:c.8754T>G
CA364384202
NM_001292009.1:c.8752T>C