Allele Registry

Canonical Allele Identifier: PA092013

Gene: RPE65 HGNC NCBI

ClinVar RCV:

RCV000085162

RCV000327489

RCV000539372

RCV001096917

RCV001096918

RCV001273331

RCV002490739

RCV003460768

ClinVar Variation:

98836

HGVS (amino-acid)	Matching Registered Transcripts
NP_000320.1:p.Ala434Val	CA226501 NM_000329.3:c.1301C>T