Canonical Allele Identifier: PA092321
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 29870
ClinVar RCV Id: RCV000022749 RCV000022750 RCV000085150 RCV000348257 RCV000787920 RCV001054423 RCV001275328 RCV003764626
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Tyr368His
CA226484
NM_000329.3:c.1102T>C