Canonical Allele Identifier: PA658663721
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 427864
ClinVar RCV Id: RCV000515733 RCV001245608 RCV003766756
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Arg446Ser
CA340742354
NM_000329.3:c.1338G>T
CA340742355
NM_000329.3:c.1338G>C