ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA226543
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98864
ClinVar RCV Id:
RCV000085193
RCV001588914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Gly104Val
CA226542
NM_000329.3:c.311G>T