Canonical Allele Identifier: PA2741814907
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2934111
ClinVar RCV Id: RCV003795861
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Glu512Lys
CA902135
NM_000329.3:c.1534G>A