Canonical Allele Identifier: PA1139676321
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 874186
ClinVar RCV Id: RCV001096919 RCV001096920 RCV001578815 RCV002555987 RCV003890237
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Arg413His
CA902247
NM_000329.3:c.1238G>A