ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA092159
Gene: RPE65
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
104720
ClinVar RCV:
RCV000085155
RCV000132582
RCV001047503
RCV001074416
RCV001250675
RCV001275340
RCV002498450
RCV004527312
ClinVar Variation:
98830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000320.1:p.Gly40Ser
CA226491
NM_000329.3:c.118G>A