Canonical Allele Identifier: PA092312
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98889
ClinVar RCV Id: RCV000085220 RCV000678618 RCV001207227 RCV001831895 RCV003764797
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Tyr239Asp
CA226579
NM_000329.3:c.715T>G