ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916018564
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444686
ClinVar RCV Id:
RCV000513506
RCV001159547
RCV001285867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.His2599Arg
CA3876776
NM_001292009.1:c.7796A>G