ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139698742
Gene: EYS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
835514
ClinVar RCV Id:
RCV001036407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278938.1:p.Ala2537Val
CA364385480
NM_001292009.1:c.7610C>T