ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825850854
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1696175
ClinVar RCV Id:
RCV002266319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136272.1:p.Val2542Phe
CA364385409
NM_001142800.2:c.7624G>T