Canonical Allele Identifier: PA2741852831
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 2988467
ClinVar RCV Id: RCV003844650

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278938.1:p.Val2097Leu
CA364391432
NM_001292009.1:c.6289G>C