Canonical Allele Identifier: PA1139676348
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 850613
ClinVar RCV Id: RCV001054822 RCV001250697 RCV001827346 RCV004527410
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Ala434Glu
CA340742486
NM_000329.3:c.1301C>A