Canonical Allele Identifier: PA916058594
Gene: EYS HGNC NCBI

Linked Data

ClinVar Variation Id: 287293
ClinVar RCV Id: RCV000297195 RCV001833372
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_938024.1:p.Cys554Ser
CA3877651
NM_198283.2:c.1660T>A
CA364661137
NM_198283.2:c.1661G>C