Canonical Allele Identifier: PA092022
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98840
ClinVar RCV Id: RCV000085166 RCV001250676 RCV001275338 RCV000701390 RCV001257816 RCV001808321 RCV004528783
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Arg44Gln
CA226506
NM_000329.3:c.131G>A