Canonical Allele Identifier: PA2499231233
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052287
ClinVar RCV Id: RCV001360438 RCV001831202
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Arg515Gln
CA902134
NM_000329.3:c.1544G>A