ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826816952
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
357750
ClinVar RCV Id:
RCV000297438
RCV000941634
RCV001828353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Glu31Lys
CA3878130
NM_001292009.1:c.91G>A