ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA092189
Gene: RPE65
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000085204
RCV001250687
ClinVar Variation:
98874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.His182Asn
CA226558
NM_000329.3:c.544C>A