Canonical Allele Identifier: PA092070
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 13115
ClinVar RCV Id: RCV000013994 RCV000085184 RCV000527143 RCV000787698 RCV001250682 RCV001257818 RCV001073556 RCV001275337 RCV001095690 RCV001813981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Arg91Trp
CA226531
NM_000329.3:c.271C>T